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rs80359854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80359854(-;-)
Make rs80359854(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position27777068
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359854
ebirs80359854
HLIrs80359854
Exacrs80359854
Varsomers80359854
Maprs80359854
PheGenIrs80359854
hapmaprs80359854
1000 genomesrs80359854
hgdprs80359854
ensemblrs80359854
gopubmedrs80359854
geneviewrs80359854
scholarrs80359854
googlers80359854
pharmgkbrs80359854
gwascentralrs80359854
openSNPrs80359854
23andMers80359854
23andMe allrs80359854
SNP Nexus

SNPshotrs80359854
SNPdbers80359854
MSV3drs80359854
GWAS Ctlgrs80359854
Max Magnitude0
OMIM609353
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80359854(;)
Alt rs80359854(;)
Reference rs80359854(A;A)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634585delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000020409.4,


[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.