Variant #0000002816 (NC_000015.9:g.68500618_68500620delAGG, CLN6(NM_017882.2):c.794_796delCCT)

Individual ID 00002816
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68500618_68500620delAGG
Reference Sharp et al 2003 Hum Mut 22: 35-42;Santorelli pers comm.;Kousi et al 2009. Brain 132:810-9;Al-Muhaizea et al 2009 Pediatr Neruol 41: 74-76
DB-ID CLN6_000041
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 ./. 7 c.794_796delCCT r.(?) p.(Ser265del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002816 ? ? CLN6 1 Y Yang