rs373145711
A SNP in the ASXL1 gene on chromosome 20. Its most notable genotype is C;T: Bohring-Opitz syndrome
- Gene
- ASXL1
- Location
- Chr 2032,433,408 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
rs373145711, also known as c.1210C>T, p.Arg404Ter, R404X, represents a rare mutation in the ASXL1 gene on chromosome 20. Considered an autosomal dominant mutation leading to Bohring-Opitz syndrome, the minor allele has been seen in apparently normal individuals in the ExAC (exome) database. This has been explained as a case of somatic mosaicism, prompting researchers to worry that similar cases of somatic mosaicism may lead to the inaccurate assumption that conditions like Bohring-Opitz syndrome have reduced penetrance, or the misclassification of potentially pathogenic variants.
C;T
see rs373145711
Source and license
Adapted from rs373145711 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.