Variant #0000000692 (NC_000005.9:g.179260165G>T, SQSTM1(NM_003900.4):c.888G>T)

Individual ID 00000692
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179260165G>T
Reference Kwok CT1, Morris A1, de Belleroche JS1.(2014)
DB-ID SQSTM1_000004
Frequency -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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     
SQSTM1 NM_003900.4 ./. 6 c.888G>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000692 ? ? SQSTM1 1 Y Yang