rs138249161

plus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

106432421

Gene

POLR3B

is a	snp
is	mentioned by
dbSNP	rs138249161
dbSNP (classic)	rs138249161
ClinGen	rs138249161
ebi	rs138249161
HLI	rs138249161
Exac	rs138249161
Gnomad	rs138249161
Varsome	rs138249161
LitVar	rs138249161
Map	rs138249161
PheGenI	rs138249161
Biobank	rs138249161
1000 genomes	rs138249161
hgdp	rs138249161
ensembl	rs138249161
geneview	rs138249161
scholar	rs138249161
google	rs138249161
pharmgkb	rs138249161
gwascentral	rs138249161
openSNP	rs138249161
23andMe	rs138249161
SNPshot	rs138249161
SNPdbe	rs138249161
MSV3d	rs138249161
GWAS Ctlg	rs138249161

Max Magnitude

6

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 not provided Cerebellar hypoplasia with endosteal sclerosis
Variation	info
Gene	POLR3B
CLNDBN	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism not provided Cerebellar hypoplasia with endosteal sclerosis
Reversed	0
HGVS	NC_000012.11:g.106826199T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032280.4, RCV000199616.1, RCV000442312.1, RCV000477831.1,