rs80338723

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	5.7	Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(A;G)	3	Carrier of a citrullinemia/citrin deficiency allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

96170044

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs80338723
dbSNP (classic)	rs80338723
ClinGen	rs80338723
ebi	rs80338723
HLI	rs80338723
Exac	rs80338723
Gnomad	rs80338723
Varsome	rs80338723
LitVar	rs80338723
Map	rs80338723
PheGenI	rs80338723
Biobank	rs80338723
1000 genomes	rs80338723
hgdp	rs80338723
ensembl	rs80338723
geneview	rs80338723
scholar	rs80338723
google	rs80338723
pharmgkb	rs80338723
gwascentral	rs80338723
openSNP	rs80338723
23andMe	rs80338723
SNPshot	rs80338723
SNPdbe	rs80338723
MSV3d	rs80338723
GWAS Ctlg	rs80338723

Max Magnitude

5.7

OMIM	603859
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs80338723(A;A) rs80338723(C;C) rs80338723(T;T)
Alt	Rs80338723(A;A) rs80338723(C;C) rs80338723(T;T)
Reference	Rs80338723(G;G)
Significance	Pathogenic
Disease	Citrullinemia type II
Variation	info
Gene	SLC25A13
CLNDBN	Citrullinemia type II
Reversed	1
HGVS	NC_000007.13:g.95799356C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006373.1,

[PMID 10369257] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.