GENE REFERENCE / HGNC:4713

H19

H19 imprinted maternally expressed transcript

non-coding RNA11p15.5Gene information

What does this gene do?

The H19 gene provides instructions for making a molecule of RNA, a chemical cousin of DNA. This RNA molecule is noncoding, which means that it does not contain instructions for making a protein. Researchers believe that this noncoding RNA acts as a tumor suppressor, keeping cells from growing and dividing too fast or in an uncontrolled way. The H19 gene is highly active in various tissues before birth and appears to play an important role in early development.

In most cases, people receive one copy of each gene from the egg cell and one copy from the sperm cell. Both copies are typically active, or "turned on," in cells. However, the activity of the H19 gene depends on whether the gene comes from the egg cell or the sperm cell. Typically, only the H19 gene inherited from the egg cell is active. This parent-specific difference in gene activation is called genomic imprinting.

A nearby region of DNA regulates the genomic imprinting of the H19 gene and another gene, called IGF2, that is important for growth and development. This region is known as an imprinting center or imprinting control region. In a process known as methylation, small molecules called methyl groups are added to the imprinting center to regulate the activity of the H19 and IGF2 genes. Typically, only the H19 imprinting center that is derived from the sperm cell is methylated.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-03-04. Source review: 2025-03.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 118
Submissions for variants in or overlapping this gene: 121
Submissions explicitly reporting this gene: 59
Alleles reported pathogenic / likely pathogenic: 3
VariationIDs with uncertain significance: 21
VariationIDs with conflicting classifications: 0

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about H19?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 3 alleles in H19 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in H19.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →