Variant #0000005186 (NC_000018.10:g.51065553T>C, SMAD4(NM_005359.5):c.1086T>C)

Individual ID 00000649
Chromosome 18
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.51065553T>C
Reference -
DB-ID SMAD4_000001
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alvaro Yanzi-Instituto San Marcos
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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RNA change     

Review status     
SMAD4 NM_005359.5 -?/- 9 c.1086T>C p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000751 DNA SEQ-NG;z-score-CNV Héritas Panel 24 genes (BRCA1, BRCA2, PTEN, TP53, ATM, CDH1, CHEK2, NBN, NF1, PALB2, STK11, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, PMS2, APC, MUTYH, BMPR1A, SMAD4, CDKN2A, CDK4) 27-nov-2017 Multigenetic panel - 5 Alvaro Yanzi-Instituto San Marcos