rs121918165

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Leber congenital amaurosis mutation

Make rs121918165(T;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

79493636

Gene

LCA5

is a	snp
is	mentioned by
dbSNP	rs121918165
dbSNP (classic)	rs121918165
ClinGen	rs121918165
ebi	rs121918165
HLI	rs121918165
Exac	rs121918165
Gnomad	rs121918165
Varsome	rs121918165
LitVar	rs121918165
Map	rs121918165
PheGenI	rs121918165
Biobank	rs121918165
1000 genomes	rs121918165
hgdp	rs121918165
ensembl	rs121918165
geneview	rs121918165
scholar	rs121918165
google	rs121918165
pharmgkb	rs121918165
gwascentral	rs121918165
openSNP	rs121918165
23andMe	rs121918165
SNPshot	rs121918165
SNPdbe	rs121918165
MSV3d	rs121918165
GWAS Ctlg	rs121918165

Max Magnitude

3

aka c.835C>T (p.Gln279Ter or Q279X)

OMIM	611408
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918165(T;T)
Alt	rs121918165(T;T)
Reference	Rs121918165(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 5 Inborn genetic diseases Leber congenital amaurosis
Variation	info
Gene	LCA5
CLNDBN	Leber congenital amaurosis 5 Inborn genetic diseases Leber congenital amaurosis
Reversed	1
HGVS	NC_000006.11:g.80203353G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001019.3, RCV000190663.1, RCV000355235.1,

[PMID 17546029] Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.