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rs138249161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Hypomyelinating leukodystrophy, type 8
(A;T) 3 carrier of one hypomyelinating leukodystrophy allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position106432421
GenePOLR3B
is asnp
is mentioned by
dbSNPrs138249161
ebirs138249161
HLIrs138249161
Exacrs138249161
Varsomers138249161
Maprs138249161
PheGenIrs138249161
hapmaprs138249161
1000 genomesrs138249161
hgdprs138249161
ensemblrs138249161
gopubmedrs138249161
geneviewrs138249161
scholarrs138249161
googlers138249161
pharmgkbrs138249161
gwascentralrs138249161
openSNPrs138249161
23andMers138249161
23andMe allrs138249161
SNP Nexus

SNPshotrs138249161
SNPdbers138249161
MSV3drs138249161
GWAS Ctlgrs138249161
Max Magnitude6

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.

ClinVar
Risk rs138249161(A;A)
Alt rs138249161(A;A)
Reference rs138249161(T;T)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 8
Variation info
Gene POLR3B
CLNDBN Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed 0
HGVS NC_000012.11:g.106826199T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032280.4, RCV000199616.1,