rs386833967

plus

Geno	Mag	Summary
(-;AACA)	3	Carrier of a mutation for neuronal ceroid-lipofuscinoses mutation
(AACA;AACA)	0	common in clinvar
(ACAA;ACAA)	0	common in clinvar
(D;I)		If from Ancestry DNA, likely to be a miscall

Make rs386833967(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77000848

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs386833967
dbSNP (classic)	rs386833967
ClinGen	rs386833967
ebi	rs386833967
HLI	rs386833967
Exac	rs386833967
Gnomad	rs386833967
Varsome	rs386833967
LitVar	rs386833967
Map	rs386833967
PheGenI	rs386833967
Biobank	rs386833967
1000 genomes	rs386833967
hgdp	rs386833967
ensembl	rs386833967
geneview	rs386833967
scholar	rs386833967
google	rs386833967
pharmgkb	rs386833967
gwascentral	rs386833967
openSNP	rs386833967
23andMe	rs386833967
SNPshot	rs386833967
SNPdbe	rs386833967
MSV3d	rs386833967
GWAS Ctlg	rs386833967

Max Magnitude

3

rs386833967, also known as c.1103_1106delAACA and p.Lys368Serfs, represents a very rare deletion mutation in the CLN5 gene on chromosome 13.

The variant (deletion) allele is considered pathogenic for ceroid lipofuscinosis neuronal 5, a recessively inherited condition, according to ClinVar.

ClinVar
Risk	rs386833967(-;-)
Alt	rs386833967(-;-)
Reference	Rs386833967(ACAA;ACAA)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77574983_77574986delAACA
CLNSRC	ClinVar
CLNACC	RCV000049942.1,

[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.