rs869025321
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7.5 | Lamb-shaffer syndrome |
Make rs869025321(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 23604491 |
Gene | SOX5 |
is a | snp |
is | mentioned by |
dbSNP | rs869025321 |
dbSNP (classic) | rs869025321 |
ClinGen | rs869025321 |
ebi | rs869025321 |
HLI | rs869025321 |
Exac | rs869025321 |
Gnomad | rs869025321 |
Varsome | rs869025321 |
LitVar | rs869025321 |
Map | rs869025321 |
PheGenI | rs869025321 |
Biobank | rs869025321 |
1000 genomes | rs869025321 |
hgdp | rs869025321 |
ensembl | rs869025321 |
geneview | rs869025321 |
scholar | rs869025321 |
rs869025321 | |
pharmgkb | rs869025321 |
gwascentral | rs869025321 |
openSNP | rs869025321 |
23andMe | rs869025321 |
SNPshot | rs869025321 |
SNPdbe | rs869025321 |
MSV3d | rs869025321 |
GWAS Ctlg | rs869025321 |
Max Magnitude | 7.5 |
rs869025321, also known as c.1021G>T, p.Gly341Ter and G341X, represents a very rare mutation in the SOX5 gene on chromosome 12.
Inherited as an autosomal dominant mutation, rs869025321(T) is reported to lead to Lamb-shaffer syndrome, a disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features.[PMID 26111154]
ClinVar | |
---|---|
Risk | rs869025321(T;T) |
Alt | rs869025321(T;T) |
Reference | Rs869025321(G;G) |
Significance | Pathogenic |
Disease | Lamb-shaffer syndrome |
Variation | info |
Gene | SOX5 |
CLNDBN | Lamb-shaffer syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.23757425C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207472.1, |