Variant #0000002789 (NC_000015.9:g.68506654_68506657dup, CLN6(NM_017882.2):c.268_271dup)

Individual ID 00002789
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68506654_68506657dup
Reference Teixeira et al. 2003 Hum Mut 21: 502-508;Moore et al 2008 Clin Genet. 74:213-22
DB-ID CLN6_000015
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     
CLN6 NM_017882.2 ./. 3 c.268_271dup r.(?) p.(Val91Glufs*42) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002789 ? ? CLN6 1 Y Yang