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rs80359857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs80359857(-;-)
Make rs80359857(-;AG)
ReferenceGRCh38 38.1/141
Chromosome8
Position27780191
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359857
ebirs80359857
HLIrs80359857
Exacrs80359857
Varsomers80359857
Maprs80359857
PheGenIrs80359857
hapmaprs80359857
1000 genomesrs80359857
hgdprs80359857
ensemblrs80359857
gopubmedrs80359857
geneviewrs80359857
scholarrs80359857
googlers80359857
pharmgkbrs80359857
gwascentralrs80359857
openSNPrs80359857
23andMers80359857
23andMe allrs80359857
SNP Nexus

SNPshotrs80359857
SNPdbers80359857
MSV3drs80359857
GWAS Ctlgrs80359857
Max Magnitude0
ClinVar
Risk rs80359857(;)
Alt rs80359857(;)
Reference rs80359857(AG;AG)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637708_27637709delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020413.1,


[PMID 15821733] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.


[PMID 18186147] Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.


[PMID 18411254] The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.