Variant #0000002781 (NC_000015.9:g.68510872dup, CLN6(NM_017882.2):c.198+2dup)

Individual ID 00002781
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68510872dup
Reference Sharp et al 2003 Hum Mut 22: 35-42
DB-ID CLN6_000007
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN6 NM_017882.2 ./. 2i c.198+2dup r.spl? p.? VariO:0142 DNA insertion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002781 ? ? CLN6 1 Y Yang