Variant #0000006403 (NC_000005.9:g.179248093G>A, SQSTM1(NM_003900.4):c.157G>A)

Individual ID 00006414
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179248093G>A
Reference Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013)
DB-ID SQSTM1_000032
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
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 ?/. 1 c.157G>A r.(?) p.(Ala53Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006438 ? ? SQSTM1 1 XY Liu