Træk
Pointed chin
A marked tapering of the lower face to the chin.
Resumé
- Også kaldet
- Pointy chin, Small pointed chin, Witch's chin, Pointed mention region
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test150 gener knyttet til Pointed chin
Ændringer i disse gener forårsager sjældne tilstande, hvor Pointed chin ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altid | I 1 tilstand |
| CDH11cadherin 11 | Altid | I 2 tilstande |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Altid | I 2 tilstande |
| PORCNporcupine O-acyltransferase | Altid | I 2 tilstande |
| SLC37A4solute carrier family 37 member 4 | Altid | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Altid | I 2 tilstande |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altid | I 2 tilstande |
| TBC1D7TBC1 domain family member 7 | Altid | I 2 tilstande |
| TLK2tousled like kinase 2 | Altid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TMEM94transmembrane protein 94 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 3 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 110 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 2 tilstande |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofte (30–79 %) | I 2 tilstande |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Ofte (30–79 %) | I 1 tilstand |
| CUL7cullin 7 | Ofte (30–79 %) | I 2 tilstande |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ofte (30–79 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Ofte (30–79 %) | I 1 tilstand |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| MEIS2Meis homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Ofte (30–79 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKG2protein kinase cGMP-dependent 2 | Ofte (30–79 %) | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ofte (30–79 %) | I 2 tilstande |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 1 tilstand |
| YY1YY1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 3 tilstande |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Ofte (30–79 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| CBFBcore-binding factor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MESDmesoderm development LRP chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ikke registreret | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registreret | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registreret | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger