rs1061235 a variant in the HLA-A gene

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 rs1061235 is the catalogue number of one of them, in the HLA-A gene. Which letters you carry there — one copy from each parent — is your genotype.

HLA-A (major histocompatibility complex, class I, A): HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells.

Gene description from NCBI Gene

rs1061235(T) serves as a proxy for the HLA-A*3101 allele. The HLA-A*3101 allele, found in about 2 - ...

From SNPedia

Why might it matter?

ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Carbamazepine hypersensitivity

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.

Medicines

Never start, stop or change a medicine because of a genetic result without speaking to the prescriber.

Do I have this variant?

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.

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.

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

rs1061235

Gene

HLA-A

Position (GRCh38)

chr6:29945520

Variant type

snv

Consequence

3 prime UTR variant

ClinVar classification

risk factor

Genome-wide association studies (1)

How common the less frequent letter is

gnomAD ALL

99.5%

1kG AFR

90.9%

1kG ALL

91.5%

1kG AMR

93.4%

1kG EAS

88.3%

1kG EUR

3.3%

1kG SAS

88.9%

Sources

• dbSNP: rs1061235 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: HLA-A
• Ensembl: HLA-A
• GWAS Catalog — association studies

Related

• The HLA-A gene
• SNP explorer
• Gene directory
• Health conditions