rs797044962
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044962(C;T) |
Make rs797044962(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 114325034 |
Gene | CHAMP1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044962 |
dbSNP (classic) | rs797044962 |
ClinGen | rs797044962 |
ebi | rs797044962 |
HLI | rs797044962 |
Exac | rs797044962 |
Gnomad | rs797044962 |
Varsome | rs797044962 |
LitVar | rs797044962 |
Map | rs797044962 |
PheGenI | rs797044962 |
Biobank | rs797044962 |
1000 genomes | rs797044962 |
hgdp | rs797044962 |
ensembl | rs797044962 |
geneview | rs797044962 |
scholar | rs797044962 |
rs797044962 | |
pharmgkb | rs797044962 |
gwascentral | rs797044962 |
openSNP | rs797044962 |
23andMe | rs797044962 |
SNPshot | rs797044962 |
SNPdbe | rs797044962 |
MSV3d | rs797044962 |
GWAS Ctlg | rs797044962 |
Max Magnitude | 0 |
aka c.1192C>T (p.Arg398Ter)
Considered pathogenic in ClinVar for a form of autosomal dominant mental retardation.
ClinVar | |
---|---|
Risk | rs797044962(T;T) |
Alt | rs797044962(T;T) |
Reference | Rs797044962(C;C) |
Significance | Pathogenic |
Disease | intellectual disability with severe speech impairment Mental retardation |
Variation | info |
Gene | CHAMP1 |
CLNDBN | intellectual disability with severe speech impairment Mental retardation, autosomal dominant 40 |
Reversed | 0 |
HGVS | NC_000013.10:g.115090509C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190452.1, RCV000192002.3, |