Variant #0000002743 (NC_000013.10:g.77566311G>A, CLN5(NM_006493.2):c.225G>A)

Individual ID 00002743
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77566311G>A
Reference Savukoski et al. 1998 Nature Genetics 19:286-288;Holmberg et al. 2000 Neurology 55:579-581;Xin et al 2010 Neurology 74:565-71
DB-ID CLN5_000003
Frequency -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN5 NM_006493.2 ./. 1 c.225G>A r.(?) p.(Trp75*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002743 ? ? CLN5 1 Y Yang