rs201779890
From SNPedia
Orientation | minus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | thrombocytopenia-absent radius syndrome |
(C;G) | 3 | Carrier of a mutation for thrombocytopenia-absent radius syndrome |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 145927328 |
Gene | LOC105371260, RBM8A |
is a | snp |
is | mentioned by |
dbSNP | rs201779890 |
dbSNP (classic) | rs201779890 |
ClinGen | rs201779890 |
ebi | rs201779890 |
HLI | rs201779890 |
Exac | rs201779890 |
Gnomad | rs201779890 |
Varsome | rs201779890 |
LitVar | rs201779890 |
Map | rs201779890 |
PheGenI | rs201779890 |
Biobank | rs201779890 |
1000 genomes | rs201779890 |
hgdp | rs201779890 |
ensembl | rs201779890 |
geneview | rs201779890 |
scholar | rs201779890 |
rs201779890 | |
pharmgkb | rs201779890 |
gwascentral | rs201779890 |
openSNP | rs201779890 |
23andMe | rs201779890 |
SNPshot | rs201779890 |
SNPdbe | rs201779890 |
MSV3d | rs201779890 |
GWAS Ctlg | rs201779890 |
Max Magnitude | 8 |
rs201779890, also known as c.67+32G>C, represents a relatively rare (~1 in 200 alleles) 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 | Rs201779890(C;C) |
Alt | Rs201779890(C;C) |
Reference | Rs201779890(G;G) |
Significance | Other |
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.145507765G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023419.7, RCV000172898.2, |