Variant #0000002795 (NC_000015.9:g.68504103_68504104delAG, CLN6(NM_017882.2):c.395_396delCT)

Individual ID 00002795
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68504103_68504104delAG
Reference Wheeler et al. 2002 Am J Hum Genet 70: 537-542;Cannelli et al. 2009. Biochem Biophys Res Comm 379:892-7;Al-Muhaizea et al 2009 Pediatr Neurol 41: 74-76
DB-ID CLN6_000020
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 ./. 4 c.395_396delCT r.(?) p.(Ser132Cysfs*18) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002795 ? ? CLN6 1 Y Yang