Variant #0000000736 (NC_000005.10:g.112839522_112839523del, NM_000038.5:c.3928_3929del (APC))

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.112839522_112839523del
Published as c.3928-3929delAA
Reference Lu Ping Tan et al. (2007)
DB-ID APC_000006 See all 2 reported entries
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
Date created 2020-11-09 12:32:42 +08:00 (CST)
Date last edited 2020-12-06 14:48:18 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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Protein     

GVS function     

Clinical classification     
APC NM_000038.5 ?/. 18 c.3928_3929del c.3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

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