rs398123555

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	3	Carrier of a Fukuyama congenital muscular dystrophy mutation

Make rs398123555(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105620056

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs398123555
dbSNP (classic)	rs398123555
ClinGen	rs398123555
ebi	rs398123555
HLI	rs398123555
Exac	rs398123555
Gnomad	rs398123555
Varsome	rs398123555
LitVar	rs398123555
Map	rs398123555
PheGenI	rs398123555
Biobank	rs398123555
1000 genomes	rs398123555
hgdp	rs398123555
ensembl	rs398123555
geneview	rs398123555
scholar	rs398123555
google	rs398123555
pharmgkb	rs398123555
gwascentral	rs398123555
openSNP	rs398123555
23andMe	rs398123555
SNPshot	rs398123555
SNPdbe	rs398123555
MSV3d	rs398123555
GWAS Ctlg	rs398123555

Max Magnitude

3

aka c.1167dupA (p.Phe390Ilefs)

ClinVar
Risk	rs398123555(A;A)
Alt	rs398123555(A;A)
Reference	Rs398123555(-;-)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Limb-girdle muscular dystrophy-dystroglycanopathy not provided Fukuyama congenital muscular dystrophy
Variation	info
Gene	FKTN
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 not provided Fukuyama congenital muscular dystrophy
Reversed	0
HGVS	NC_000009.11:g.108382337dupA
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003356.3, RCV000003357.4, RCV000079427.5, RCV000411292.1,