rs151344523

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.8	Spinocerebellar ataxia-28 (predicted)
(G;G)	0	common in clinvar

Make rs151344523(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

12337411

Gene	AFG3L2, LOC107985154

is a	snp
is	mentioned by
dbSNP	rs151344523
dbSNP (classic)	rs151344523
ClinGen	rs151344523
ebi	rs151344523
HLI	rs151344523
Exac	rs151344523
Gnomad	rs151344523
Varsome	rs151344523
LitVar	rs151344523
Map	rs151344523
PheGenI	rs151344523
Biobank	rs151344523
1000 genomes	rs151344523
hgdp	rs151344523
ensembl	rs151344523
geneview	rs151344523
scholar	rs151344523
google	rs151344523
pharmgkb	rs151344523
gwascentral	rs151344523
openSNP	rs151344523
23andMe	rs151344523
SNPshot	rs151344523
SNPdbe	rs151344523
MSV3d	rs151344523
GWAS Ctlg	rs151344523

Max Magnitude

6.8

aka c.2105G>A (p.Arg702Gln or R702Q)

Considered in ClinVar to be a dominant mutation leading to spinocerebellar ataxia-28.

ClinVar
Risk	rs151344523(A;A)
Alt	rs151344523(A;A)
Reference	Rs151344523(G;G)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 28 not provided
Variation	info
Gene	AFG3L2
CLNDBN	Spinocerebellar ataxia 28 not provided
Reversed	1
HGVS	NC_000018.9:g.12337410C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005807.3, RCV000487661.1,