Variant #0000002912 (NC_000008.10:g.1728533G>A, CLN8(NM_018941.3):c.661G>A)

Individual ID 00002912
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1728533G>A
Reference Kousi M1, Lehesjoki AE, Mole SE.(2012)
DB-ID CLN8_000021
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-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     
CLN8 NM_018941.3 ./. 3 c.661G>A r.(?) p.(Gly221Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002912 ? ? CLN8 1 Y Yang