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rs139428292

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;A) 8 thrombocytopenia-absent radius syndrome
(A;G) 3 Carrier of a mutation for thrombocytopenia-absent radius syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position145927447
GeneLOC105371260, RBM8A
is asnp
is mentioned by
dbSNPrs139428292
dbSNP (old)rs139428292
ClinGenrs139428292
ebirs139428292
HLIrs139428292
Exacrs139428292
Varsomers139428292
Maprs139428292
PheGenIrs139428292
Biobankrs139428292
1000 genomesrs139428292
hgdprs139428292
ensemblrs139428292
gopubmedrs139428292
geneviewrs139428292
scholarrs139428292
googlers139428292
pharmgkbrs139428292
gwascentralrs139428292
openSNPrs139428292
23andMers139428292
23andMe allrs139428292
SNP Nexus

SNPshotrs139428292
SNPdbers139428292
MSV3drs139428292
GWAS Ctlgrs139428292
Max Magnitude8

rs139428292, also known as c.-21G>A, represents a relatively rare mutation in the RBM8A gene on chromosome 1.

The minor allele is reported in ClinVar (as well as BabySeq) as a recessively inherited pathogenic mutation leading to thrombocytopenia-absent radius syndrome (TAR). Based on OMIM, most cases of TAR are caused by carrying a rare null (large deletion allele) on one chromosome 1 and either rs201779890(C) or rs139428292(A) on the other.


ClinVar
Risk Rs139428292(A;A) rs139428292(T;T)
Alt Rs139428292(A;A) rs139428292(T;T)
Reference Rs139428292(G;G)
Significance Pathogenic
Disease Radial aplasia-thrombocytopenia syndrome not provided
Variation info
Gene RBM8A
CLNDBN Radial aplasia-thrombocytopenia syndrome not provided
Reversed 0
HGVS NC_000001.10:g.145507646G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000023418.9, RCV000081257.4,


[PMID 26550033OA-icon.png] Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case