Variant #0000002931 (NC_000015.9:g.68506674delT, CLN6(NM_017882.2):c.251delA)

Individual ID 00002931
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68506674delT
Reference Kousi M1, Lehesjoki AE, Mole SE.(2012)
DB-ID CLN6_000014 See all 2 reported entries
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.251delA r.(?) p.(Tyr84Serfs*32) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002931 ? ? CLN6 1 Y Yang