Genetic variant

rs121912617 a variant in the BHLHE41 gene

rs121912617 is a single-letter difference in the BHLHE41 gene, on chromosome 12. It has been reported in connection with Short sleep, familial natural and 1. Carrying it does not, on its own, mean you have or will develop any condition.

Register free Do I have this variant?

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs121912617 is the catalogue number of one of them, in the BHLHE41 gene. Which letters you carry there — one copy from each parent — is your genotype.

BHLHE41 (basic helix-loop-helix family member e41): This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype.

Gene description from NCBI Gene

rs121912617, also known as Pro384Arg or P384R, is a SNP in the basic helix-loop-helix family, member...

From SNPedia

Why might it matter?

ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.

Conditions it has been reported with

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs121912617, if your test read this position.

Register free Upload DNA Log in

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

Upload blood results

What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
Register free Upload DNA Upload blood results Ask Dr. Hemsworth

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs121912617
Gene
BHLHE41
Position
chr12:26122364
ClinVar classification
Affects

Sources