Variant #0000002774 (NC_000013.10:g.77574593_77574780del, CLN5(NM_006493.2):c.713_900del)

Individual ID 00002774
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77574593_77574780del
Reference Xin et al 2010 Neurology 74:565-71
DB-ID CLN5_000041
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN5 NM_006493.2 ./. 4 c.713_900del r.(?) p.(Gly238Aspfs*21) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002774 ? ? CLN5 1 Y Yang