rs281875319

Orientation

minus

Stabilized

minus

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

Make rs281875319(A;A)

Make rs281875319(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81934380

Gene

PYCR1

is a	snp
is	mentioned by
dbSNP	rs281875319
dbSNP (classic)	rs281875319
ClinGen	rs281875319
ebi	rs281875319
HLI	rs281875319
Exac	rs281875319
Gnomad	rs281875319
Varsome	rs281875319
LitVar	rs281875319
Map	rs281875319
PheGenI	rs281875319
Biobank	rs281875319
1000 genomes	rs281875319
hgdp	rs281875319
ensembl	rs281875319
geneview	rs281875319
scholar	rs281875319
google	rs281875319
pharmgkb	rs281875319
gwascentral	rs281875319
openSNP	rs281875319
23andMe	rs281875319
SNPshot	rs281875319
SNPdbe	rs281875319
MSV3d	rs281875319
GWAS Ctlg	rs281875319

Max Magnitude

0

ClinVar
Risk	rs281875319(A;A)
Alt	rs281875319(A;A)
Reference	Rs281875319(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type 3B not provided
Variation	info
Gene	PYCR1
CLNDBN	Autosomal recessive cutis laxa type 3B not provided
Reversed	1
HGVS	NC_000017.10:g.79892256C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022744.24, RCV000059739.1,

[PMID 22052856] Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.