Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
(ACAA;ACAA) 0 common in clinvar
Make rs386833967(-;-)
Make rs386833967(-;AACA)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000848
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833967
ebirs386833967
HLIrs386833967
Exacrs386833967
Varsomers386833967
Maprs386833967
PheGenIrs386833967
hapmaprs386833967
1000 genomesrs386833967
hgdprs386833967
ensemblrs386833967
gopubmedrs386833967
geneviewrs386833967
scholarrs386833967
googlers386833967
pharmgkbrs386833967
gwascentralrs386833967
openSNPrs386833967
23andMers386833967
23andMe allrs386833967
SNP Nexus

SNPshotrs386833967
SNPdbers386833967
MSV3drs386833967
GWAS Ctlgrs386833967
Max Magnitude0
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.