Variant #0000002885 (NC_000016.9:g.28502798C>T, CLN3(NM_000086.2):c.125+5G>A)

Individual ID 00002885
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28502798C>T
Reference Kousi M1, Lehesjoki AE, Mole SE.(2012)
DB-ID CLN3_000047
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN3 NM_000086.2 ./. 2i c.125+5G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002885 ? ? CLN3 1 Y Yang