Variant #0000010165 (NC_000017.11:g.43124030_43124031delCT, NM_007294.4:c.68_69delAG (BRCA1))

Individual ID 00003113
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43124030_43124031delCT
Reference -
DB-ID BRCA1_000010 See all 18 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2024-08-26 17:11:59 -03:00 (-03)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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Review status     
BRCA1 NM_007294.4 +/+ 2 c.68_69delAG r.(68_69del) p.(Glu23Valfs*17) Hetero N/A -



Screenings


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Variants found     

Owner     
0000003431 DNA SEQ BIOMAKERS Molecular Pathology & Research BRCA1 (NM_007294.4) c.68_69del p.(Glu23Valfster17) 06-may-2024 Known familial mutation - 1 Lina Nuñez-Private Practice