rs80338725

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

96121928

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs80338725
dbSNP (classic)	rs80338725
ClinGen	rs80338725
ebi	rs80338725
HLI	rs80338725
Exac	rs80338725
Gnomad	rs80338725
Varsome	rs80338725
LitVar	rs80338725
Map	rs80338725
PheGenI	rs80338725
Biobank	rs80338725
1000 genomes	rs80338725
hgdp	rs80338725
ensembl	rs80338725
geneview	rs80338725
scholar	rs80338725
google	rs80338725
pharmgkb	rs80338725
gwascentral	rs80338725
openSNP	rs80338725
23andMe	rs80338725
SNPshot	rs80338725
SNPdbe	rs80338725
MSV3d	rs80338725
GWAS Ctlg	rs80338725

Max Magnitude

5.7

OMIM	603859
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs80338725(GAGATTACAGGTGGCTGCCCGGG;GAGATTACAGGTGGCTGCCCGGG)
Alt	Rs80338725(GAGATTACAGGTGGCTGCCCGGG;GAGATTACAGGTGGCTGCCCGGG)
Reference	Rs80338725(-;-)
Significance	Pathogenic
Disease	Citrullinemia type II
Variation	info
Gene	SLC25A13
CLNDBN	Citrullinemia type II
Reversed	1
HGVS	NC_000007.13:g.95751241_95751263dup23
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006371.3,

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