Variant #0000002806 (NC_000015.9:g.68503624delA, CLN6(NM_017882.2):c.519delT)

Individual ID 00002806
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68503624delA
Reference Cannelli et al. 2009. Biochem Biophys Res Comm 379:892-7
DB-ID CLN6_000031
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 ./. 5 c.519delT r.(?) p.(Asp173Glufs*33) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002806 ? ? CLN6 1 Y Yang