rs139428292

minus

plus

Geno	Mag	Summary
(A;A)	5	Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely
(A;G)	3	Carrier of a mutation for thrombocytopenia-absent radius syndrome
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

145927447

Gene	LOC105371260, RBM8A

is a	snp
is	mentioned by
dbSNP	rs139428292
dbSNP (classic)	rs139428292
ClinGen	rs139428292
ebi	rs139428292
HLI	rs139428292
Exac	rs139428292
Gnomad	rs139428292
Varsome	rs139428292
LitVar	rs139428292
Map	rs139428292
PheGenI	rs139428292
Biobank	rs139428292
1000 genomes	rs139428292
hgdp	rs139428292
ensembl	rs139428292
geneview	rs139428292
scholar	rs139428292
google	rs139428292
pharmgkb	rs139428292
gwascentral	rs139428292
openSNP	rs139428292
23andMe	rs139428292
SNPshot	rs139428292
SNPdbe	rs139428292
MSV3d	rs139428292
GWAS Ctlg	rs139428292

Max Magnitude

5

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 26550033 ] 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