Variant #0000004733 (NC_000017.11:g.43091824_43091825delTT, BRCA1(NM_007294.3):c.3706_3707delAA)

Individual ID 00000599
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43091824_43091825delTT
Reference -
DB-ID BRCA1_000118 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
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     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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Co_ocurrence     

Review status     
BRCA1 NM_007294.3 +/+ 11 c.3706_3707delAA r.(?) p.(Asn1236Tyrfs*7) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

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Type of test     

Genes screened     

Variants found     

Owner     
0000000689 DNA SEQ-NG Stamboulian - 25-apr-2018 Specific pathology panel BRCA1, BRCA2 19 Lina Nuñez-Hospital Alemán