Variant #0000008973 (NC_000010.11:g.86900042G>T, BMPR1A(NM_004329.2):c.446G>T)

Individual ID 00001656
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.86900042G>T
Reference -
DB-ID BMPR1A_000005 See all 2 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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RNA change     

Review status     
BMPR1A NM_004329.2 ?/? 7 c.446G>T p.(Gly149Val) Hetero no r.(=) -



Screenings


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Owner     
0000001930 DNA SEQ-NG Genda Panel (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 03-dec-2020 Multigenetic panel - 3 Silvina Sisterna-Hospital de Comunidad