Variant #0000000689 (NC_000005.9:g.179250047A>C, SQSTM1(NM_003900.4):c.295A>C)

Individual ID 00000689
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179250047A>C
Reference Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014)
DB-ID SQSTM1_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00011 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     
SQSTM1 NM_003900.4 ?/. 5 c.295A>C r.(?) p.(Ile99Leu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000689 ? ? SQSTM1 1 Y Yang