rs80359854

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs80359854(-;-)

Make rs80359854(-;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27777068

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359854
dbSNP (classic)	rs80359854
ClinGen	rs80359854
ebi	rs80359854
HLI	rs80359854
Exac	rs80359854
Gnomad	rs80359854
Varsome	rs80359854
LitVar	rs80359854
Map	rs80359854
PheGenI	rs80359854
Biobank	rs80359854
1000 genomes	rs80359854
hgdp	rs80359854
ensembl	rs80359854
geneview	rs80359854
scholar	rs80359854
google	rs80359854
pharmgkb	rs80359854
gwascentral	rs80359854
openSNP	rs80359854
23andMe	rs80359854
SNPshot	rs80359854
SNPdbe	rs80359854
MSV3d	rs80359854
GWAS Ctlg	rs80359854

Max Magnitude

0

OMIM	609353
Desc
Variant	0007
Related	also

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 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.