Variant #0000008980 (NC_000005.10:g.112828001C>A, APC(NM_000038.5):c.1621C>A)

Individual ID 00001660
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.112828001C>A
Reference -
DB-ID APC_000046
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
APC NM_000038.5 ?/? 13 c.1621C>A r.(?) p.(Gln541Lys) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001935 DNA SEQ-NG Fares Taie Panel (56 genes) APC, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICE1, FANCC, FANCM, FH, FLCN, GALNT12, HOXB13, KIT, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NYHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, XRCC2. 04-dec-2020 Multigenetic panel - 5 Silvina Sisterna-Hospital de Comunidad

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