rs80338719

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

96191189

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs80338719
dbSNP (classic)	rs80338719
ClinGen	rs80338719
ebi	rs80338719
HLI	rs80338719
Exac	rs80338719
Gnomad	rs80338719
Varsome	rs80338719
LitVar	rs80338719
Map	rs80338719
PheGenI	rs80338719
Biobank	rs80338719
1000 genomes	rs80338719
hgdp	rs80338719
ensembl	rs80338719
geneview	rs80338719
scholar	rs80338719
google	rs80338719
pharmgkb	rs80338719
gwascentral	rs80338719
openSNP	rs80338719
23andMe	rs80338719
SNPshot	rs80338719
SNPdbe	rs80338719
MSV3d	rs80338719
GWAS Ctlg	rs80338719

Max Magnitude

5.7

SLC25A13 gene, c.674C>A (p.Ser225Ter)

23andMe name: i5007231

OMIM	603859
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs80338719(A;A) rs80338719(T;T)
Alt	Rs80338719(A;A) rs80338719(T;T)
Reference	Rs80338719(C;C)
Significance	Pathogenic
Disease	Citrullinemia type II
Variation	info
Gene	SLC25A13
CLNDBN	Citrullinemia type II
Reversed	1
HGVS	NC_000007.13:g.95820501G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006372.3,

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