rs398122970
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AAACCGCCCC) | 3 | Possible miscall in Ancestry v2 data; otherwise, carrier of a mutation leading to congenital heart and spine defects |
(AAACCGCCCC;AAACCGCCCC) | 8 | Possible miscall in Ancestry v2 data; otherwise, congenital heart and spine defects likely |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8121854 |
Gene | HES7 |
is a | snp |
is | mentioned by |
dbSNP | rs398122970 |
dbSNP (classic) | rs398122970 |
ClinGen | rs398122970 |
ebi | rs398122970 |
HLI | rs398122970 |
Exac | rs398122970 |
Gnomad | rs398122970 |
Varsome | rs398122970 |
LitVar | rs398122970 |
Map | rs398122970 |
PheGenI | rs398122970 |
Biobank | rs398122970 |
1000 genomes | rs398122970 |
hgdp | rs398122970 |
ensembl | rs398122970 |
geneview | rs398122970 |
scholar | rs398122970 |
rs398122970 | |
pharmgkb | rs398122970 |
gwascentral | rs398122970 |
openSNP | rs398122970 |
23andMe | rs398122970 |
SNPshot | rs398122970 |
SNPdbe | rs398122970 |
MSV3d | rs398122970 |
GWAS Ctlg | rs398122970 |
Max Magnitude | 8 |
rs398122970, also known as c.385_394dupAAACCGCCCC or c.400_409dupAAACCGCCCC, represents a rare mutation in the HES7 gene on chromosome 17.
Inherited as an autosomal recessive, the minor allele (containing the duplication) is reported as causative for spondylocostal dysostosis and dextrocardia with situs inversus, basically congenital defects in vertebral, heart and neural tube formation.[PMID 23897666]
ClinVar | |
---|---|
Risk | Rs398122970(AAACCGCCCC;AAACCGCCCC) |
Alt | Rs398122970(AAACCGCCCC;AAACCGCCCC) |
Reference | Rs398122970(-;-) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 5 |
Variation | info |
Gene | HES7 |
CLNDBN | Spondylocostal dysostosis 5 |
Reversed | 1 |
HGVS | NC_000017.10:g.8025173_8025182dupGGGGCGGTTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000076921.3, |