Gene
H19
H19 imprinted maternally expressed transcript
- HGNC 4713↗(opens in a new tab)
- Ensembl gene ENSG00000130600↗(opens in a new tab)
- NCBI Gene 283120↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.5
- Coordinates
- Chromosome 11: 1,995,176–1,997,842 (GRCh38)
- Exons
- 5 exons across 2.7 kb
- Inheritance
- Autosomal dominant
- Also known as
- D11S813E, ASM, ASM1, NCRNA00008, LINC00008, MIR675HG, GMRSP
- MANE Select transcript
- ENST00000414790.11NR_002196.3
- Locus type
- RNA, long non-coding
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read H19, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-Wiedemann
- Beckwith-Wiedemann syndrome
An overgrowth disorder caused by imprinting changes at 11p15 (and sometimes CDKN1C variants) that can cause large birth size, an enlarged tongue, abdominal wall defects and a higher risk of childhood tumours such as Wilms tumour.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Diagnosis leads to childhood tumour surveillance, including abdominal ultrasound.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How H19 is laid out
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.3 kb of the gene's 2.7 kb.
Genes linked to the same conditions
- CDKN1Ccyclin dependent kinase inhibitor 1CShares 2 conditions
- IGF2insulin like growth factor 2Shares 2 conditions
- NLRP5NLR family pyrin domain containing 5Shares 2 conditions
- NSD1nuclear receptor binding SET domain protein 1Shares 2 conditions
- ACADVLacyl-CoA dehydrogenase very long chainShares 1 condition
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- ALPK3alpha kinase 3Shares 1 condition
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 1 condition
- CSRP3cysteine and glycine rich protein 3Shares 1 condition
- DHHdesert hedgehog signaling moleculeShares 1 condition
- DHX37DEAH-box helicase 37Shares 1 condition
- DMPKDM1 protein kinaseShares 1 condition
Traits linked to H19
The Human Phenotype Ontology lists these as features of the rare conditions H19 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Short chin
- Triangular face
- Abnormal dentition
- Dental crowding
- Facial asymmetry
- High palate
- Prominent forehead
- Relatively large head
Show 2 more traits
Growth abnormality
- Short stature
- Small for gestational age
- Uneven or disproportionate growth of one body part compared to another
- Decreased body weight
- Faltering weight
- Growth delay as children
- Prenatal growth deficiency
- Severe prenatal growth deficiency
Show 1 more trait
External links
Gene records
Transcript
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). H19 gene: H19 imprinted maternally expressed transcript. Retrieved 16 October 2026, from https://dantelabs.com/genes/h19
Dante Labs. H19 gene: H19 imprinted maternally expressed transcript [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/h19
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks