Variant #0000002845 (NC_000008.10:g.1719400_1719402delGAA, CLN8(NM_018941.3):c.180_182delGAA)

Individual ID 00002845
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1719400_1719402delGAA
Reference Vantaggiato et al. 2009. Hum Mutat 7:1104-16
DB-ID CLN8_000005
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     
CLN8 NM_018941.3 ./. 2 c.180_182delGAA r.(?) p.(Lys61del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002845 ? ? CLN8 1 Y Yang