Variant #0000003180 (NC_000017.11:g.43044928T>C, BRCA1(NM_007294.3):c.*750A>G)

Individual ID 00000394
Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43044928T>C
Reference -
DB-ID BRCA1_000082
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rita Valdez-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     

Zygosity     

Co_ocurrence     

Review status     
BRCA1 NM_007294.3 -?/-? 3'UTR c.*750A>G r.(=) p.(=) Hetero BRCA2 -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000447 DNA SEQ-NG CEG - 3-apr-2017 - BRCA1, BRCA2 4 Rita Valdez-Hospital Alemán