Variant #0000005537 (NC_000005.9:g.179260232G>A, SQSTM1(NM_003900.4):c.955G>A)

Individual ID 00005543
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179260232G>A
Reference Luis E et al. (2016)
DB-ID SQSTM1_000027
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00342 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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.955G>A r.(?) p.(Glu319Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005554 ? ? SQSTM1 1 XY Liu