Variant #0000002805 (NC_000015.9:g.68503631_68503633delTAG, CLN6(NM_017882.2):c.510_512delCTA)

Individual ID 00002805
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68503631_68503633delTAG
Reference Gao et al. 2002. Am J Hum Genet 70: 324-335
DB-ID CLN6_000030
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.510_512delCTA r.(?) p.(Tyr172del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002805 ? ? CLN6 1 Y Yang