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rs80359853

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80359853(-;-)
Make rs80359853(-;A)
Make rs80359853(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position27777068
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359853
ebirs80359853
HLIrs80359853
Exacrs80359853
Varsomers80359853
Maprs80359853
PheGenIrs80359853
hapmaprs80359853
1000 genomesrs80359853
hgdprs80359853
ensemblrs80359853
gopubmedrs80359853
geneviewrs80359853
scholarrs80359853
googlers80359853
pharmgkbrs80359853
gwascentralrs80359853
openSNPrs80359853
23andMers80359853
23andMe allrs80359853
SNP Nexus

SNPshotrs80359853
SNPdbers80359853
MSV3drs80359853
GWAS Ctlgrs80359853
Max Magnitude0
OMIM609353
Desc
Variant0004
Relatedalso
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 16380922OA-icon.png] 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.