Variant #0000000455 (NC_000003.11:g.57291043T>G, APPL1(NM_012096.2):c.1211T>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.57291043T>G
Reference -
DB-ID APPL1_000004
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APPL1 NM_012096.2 ?/? - c.1211T>G r.(?) p.(Phe404Cys)