Variant #0000003420 (NC_000010.11:g.86912245_86912247del, BMPR1A(NM_004329.2):c.536_538del)

Individual ID 00000434
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.86912245_86912247del
Reference -
DB-ID BMPR1A_000001
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Vanesa Lotersztein-Genesia/Progenitest
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     
BMPR1A NM_004329.2 ?/? 8 c.536_538del p.(Tyr179del) Hetero no r.(?) RECLASSIFIED MARCH 2018



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000489 DNA CNV Genesia - Progenitest;COLOR Hereditary Cancer Risk Test (30 genes) 1-oct-2017 Multigenetic panel - 2 Vanesa Lotersztein-Genesia/Progenitest