Variant #0000002746 (NC_000013.10:g.77566414C>T, CLN5(NM_006493.2):c.320+8C>T)

Individual ID 00002746
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77566414C>T
Reference Xin et al 2010 Neurology 74:565-71
DB-ID CLN5_000006
Frequency -
Average frequency (gnomAD v.2.1.1) 0.06906 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     
CLN5 NM_006493.2 ./. 1i c.320+8C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002746 ? ? CLN5 1 Y Yang