rs138249161
A SNP in the POLR3B gene on chromosome 12. Its most notable genotype is A;A: Hypomyelinating leukodystrophy, type 8
- Gene
- POLR3B
- Location
- Chr 12106,432,421 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadHypomyelinating leukodystrophy, type 8
- A;TBadcarrier of one hypomyelinating leukodystrophy allele
- T;TGoodcommon in clinvar
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
rs138249161, also known as c.1568T>A, p.Val523Glu and V523E, is a mutation in the POLR3B gene on chromosome 12. The minor (A) allele is a very rare variant, seen only 34 times out of 121358 alleles in ExAC, with 0 homozyotes observed and a MAF of 0.00028. When inherited recessively or as a compound heterozygote, the rs138249161(A) allele is considered a causative mutation leading to hypomyelinating leukodystrophy, type 8. See information at OMIM 614366.0005.
A;A
see discussion at rs138249161
A;T
Unaffected unless also carrying another defective allele; see discussion at rs138249161.
Source and license
Adapted from rs138249161 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.