Variant #0000002771 (NC_000013.10:g.77575017G>T, CLN5(NM_006493.2):c.1137G>T)

Individual ID 00002771
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77575017G>T
Reference Lebrun et al. 2009 Hum Mutat 30:E651-61
DB-ID CLN5_000031
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     
CLN5 NM_006493.2 ./. 4 c.1137G>T r.(?) p.(Trp379Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002771 ? ? CLN5 1 Y Yang