Gen
LBR
lamin B receptor
- HGNC 6518(åbnes i en ny fane)
- Ensembl-gen ENSG00000143815(åbnes i en ny fane)
- NCBI Gene 3930(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 1q42.12
- Koordinater
- Kromosom 1: 225.401.502–225.428.038 (GRCh38)
- Exoner
- 14 exoner fordelt over 26,5 kb
- Protein
- 615 aminosyrer
- Også kendt som
- DHCR14B, TDRD18
- MANE Select-transkript
- ENST00000272163.9NM_002296.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs LBR og resten af dit genom med én test.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Ingen Genome Test-rapport læser LBR endnu. Testen sekventerer hele dit genom, så dine data omfatter det alligevel.
Sådan er LBR opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 3,7 kb af genets 26,5 kb; 1.848 af disse baser koder for proteinet.
Sådan læser en genomtest LBR
9
positioner i LBR, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 26,5 kb af LBR, inklusive introner, og ikke kun de 3,7 kb eksoner.
Træk knyttet til LBR
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, LBR kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the musculoskeletal system
- 11 pairs of ribs
- Anterior rib punctate calcifications
- Barrel-shaped chest
- Costal cartilage calcification
- Flattened vertebrae
- Horizontal ribs
- Laryngeal calcification
- Long collarbone
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- Multiple rib fractures
- Ovoid vertebral bodies
- Permanent flexion of the finger or toe
- Prominent swayback
- Recurrent fractures
- Short long bone
- Short ribs
- Small chest
- Thoracic platyspondyly
- Thoracolumbar kyphosis
- Tracheal calcification
- Abnormal bone maturation
- Abnormal bone maturation of vertebra
- Abnormal maturation of the pelvis bone
- Abnormal vertebral body morphology
- Narrow chest
- Arthritis
- Double-Jointed
- Ectopic calcification
- Ectopic ossification
- Fractured rib
- Hunched back
- Joint dislocation
- Low muscle tone
- Multiple fractures present at birth
- Speckled calcifications in end part of bone
- Supernumerary vertebral ossification centers
- Thoracolumbar scoliosis
- Underdeveloped back bones
- Abnormality of the shoulder blade
- Absent or minimally ossified vertebral bodies
- Calcinosis cutis
- Calcium buildup in soft tissues of body
- Horizontal sacrum
- Lethal skeletal dysplasia
- Patchy increased and decreased bone mineral density
- Punctate vertebral calcifications
- Sternal punctate calcifications
Abnormality of limbs
- Absent outermost hand bone
- Bowed long bone in upper arm
- Bowed thighbone
- Bowing of outer large bone of the forearm
- Disproportionately short upper portion of limb
- Flared wide portion of long bone
- Foot drop
- High-arched foot
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- Inability to straighten knee
- Irregular wide portion of a long bone
- Knock knees
- Limited elbow extension
- Lower limb hypertonia
- Metaphyseal cupping
- Metaphyseal dysplasia
- Palmar telangiectasia
- Short fingers or toes
- Short neck of thighbone
- Shortened 4th long bone of hand
- Shortened 5th long bone of hand
- Shortened long bone of hand
- Small heel bone
- Tetraphocomelia
- Extra little finger
- Smaller or shorter than typical limbs
- Broad big toe
- Broad palm
- Disproportionately short middle portion of limb
- Limb undergrowth
- Short finger
- Talipes
- Extra toe attached near the little toe
- Shortened 3rd long bone of hand
- Upper limb undergrowth
- More than five fingers or toes on hands or feet
- Short finger bones
- Thickening of shaft or central part of long bones
- Ulnar deviation of the hand
Abnormality of head or neck
- Abnormal dentition
- Central cleft palate
- Cystic hygroma
- Depressed nasal bridge
- Frontal bossing
- Gum enlargement
- Prominent brow
- Receding chin
Vis 17 træk mere
- Midface retrusion
- Big calvaria
- Cranial defect
- Decreased bone formation of skull
- Decreased salivary flow
- Decreased size of maxilla
- Dense bone of skull base
- Dry eye syndrome
- Flat nose
- Flattening of the skull base
- Increased nuchal translucency
- Little foramen magnum
- Little lower jaw
- Relatively large head
- High forehead
- Prominent forehead
- Spider veins of the lip
Abnormality of blood and blood-forming tissues
- Abnormality of neutrophils
- Decreased blood lymphocyte number
- Hyposegmentation of neutrophil nuclei
- Abnormal leukocyte morphology
- Giant platelets
- Low blood neutrophil count
- Low platelet count
- Bone marrow failure
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Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). LBR-genet: lamin B receptor. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/lbr
Dante Labs. LBR-genet: lamin B receptor [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/lbr
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger