Variant #0000005705 (NC_000015.9:g.68500496_68500497dup, CLN6(NM_017882.2):c.917_918dup)

Individual ID 00005717
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68500496_68500497dup
Reference Sato R et al. (2016)
DB-ID CLN6_000058
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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 ./. 7 c.917_918dup r.(?) p.(Val307Thrfs*44) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005733 ? ? CLN6 2 XY Liu