Variant #0000010214 (NC_000017.11:g.43093714del, BRCA1(NM_007294.3):c.1817del)

Individual ID 00003186
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43093714del
Reference -
DB-ID BRCA1_000220 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jesica Ramirez-Hospital Central de Mendoza
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     

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Review status     
BRCA1 NM_007294.3 +/+ 11 c.1817del r.(?) p.(Pro606Leufs*6) Hetero N/A -



Screenings


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Owner     
0000003504 DNA SEQ-NG GENDA;COLOR Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. 31-aug-2022 Multigenetic panel - 1 Jesica Ramirez-Hospital Central de Mendoza