Variant #0000000741 (NC_000005.10:g.112839791_112839801del, APC(NM_000038.5):c.4197_4207del)

Individual ID 00000144
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839791_112839801del
Published as 4197-4207delTTCGATTGCCA
Reference Lu Ping Tan et al. (2007)
DB-ID APC_000011
dbSNP ID -
Frequency 1/16
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
APC NM_000038.5 ?/. - c.4197_4207del 4197-4207delTTCGATTGCCA r.(?) p.(Ser1400Leufs*5) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000159 DNA PCR;SEQ APC 14 Nuur Athirah Binti Mohd Daud