Variant #0000010200 (NC_000017.11:g.43067649_43067652del, NM_007294.4:c.5030_5033del (BRCA1))

Individual ID 00003169
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43067649_43067652del
Reference -
DB-ID BRCA1_000180 See all 6 reported entries
dbSNP ID rs80357580
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2024-09-05 18:39:33 -03:00 (-03)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
BRCA1 NM_007294.4 +/+ 16 c.5030_5033del r.? p.(Thr1677Ilefs*2) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

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Type of test     

Genes screened     

Variants found     

Owner     
0000003487 DNA SEQ CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS NM_007294.4:c.5030_5033del (p.Thr1677Ilefs*2) BRCA1 25-apr-2024 Known familial mutation - 1 Guillermo Alberto-Instituto Fleming