Variant #0000000922 (NC_000005.10:g.112838396_112838399del, NM_000038.5:c.2802_2805del (APC))

Individual ID 00000186
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112838396_112838399del
Published as Y935fs
Reference Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar
DB-ID APC_000021
dbSNP ID rs1131691143
Frequency 1/9
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-25 11:57:45 +08:00 (CST)
Date last edited 2021-08-23 15:15:53 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
APC NM_000038.5 +/. 16 c.2802_2805del Y935fs r.(?) p.(Tyr935Ilefs*19) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000201 DNA PCR;SEQ;Western APC 5 Nuur Athirah Binti Mohd Daud