rs750610248

A SNP in the BCL11B gene on chromosome 14. Its most notable genotype is A;A: common in clinvar

Gene
BCL11B
Location
Chr 1499,175,513 (GRCh38)
Highest magnitude
0.0Typical
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs750610248, also known as c.1323T>G, p.Asn441Lys and N441K, represents a rare mutation in the BCL11B gene on chromosome 14. The rs750610248(C) mutation can act as a dominant negative, leading in heterozygous condition to severe combined immunodeficiency (SCID). A news item about this, citing this as an example of finding a mutation leading to "boy in the bubble” disease, can be found here. Note that the mutation is represented here as it is in dbSNP, i.e. in forward strand orientation; the mutation is not the alternate allele listed in dbSNP, which is a benign synonymous polymorphism.

Source and license

Adapted from rs750610248 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.