rs80359853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs80359853(-;A) |
Make rs80359853(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 27777068 |
Gene | ESCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359853 |
dbSNP (classic) | rs80359853 |
ClinGen | rs80359853 |
ebi | rs80359853 |
HLI | rs80359853 |
Exac | rs80359853 |
Gnomad | rs80359853 |
Varsome | rs80359853 |
LitVar | rs80359853 |
Map | rs80359853 |
PheGenI | rs80359853 |
Biobank | rs80359853 |
1000 genomes | rs80359853 |
hgdp | rs80359853 |
ensembl | rs80359853 |
geneview | rs80359853 |
scholar | rs80359853 |
rs80359853 | |
pharmgkb | rs80359853 |
gwascentral | rs80359853 |
openSNP | rs80359853 |
23andMe | rs80359853 |
SNPshot | rs80359853 |
SNPdbe | rs80359853 |
MSV3d | rs80359853 |
GWAS Ctlg | rs80359853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80359853(A;A) |
Alt | rs80359853(A;A) |
Reference | Rs80359853(-;-) |
Significance | Pathogenic |
Disease | Roberts-SC phocomelia syndrome |
Variation | info |
Gene | ESCO2 |
CLNDBN | Roberts-SC phocomelia syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.27634585dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001808.3, |
[PMID 16380922] Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
[PMID 18411254] The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.