Variant #0000005509 (NC_000005.9:g.179251197C>T, SQSTM1(NM_003900.4):c.547C>T)

Individual ID 00005515
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179251197C>T
Reference Miller L et al. (2015)
DB-ID SQSTM1_000022
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00015 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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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 ./. 4 c.547C>T r.(?) p.(Arg183Cys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005526 ? ? SQSTM1 1 XY Liu