Variant #0000003189 (NC_000017.11:g.43093844G>A, BRCA1(NM_007294.3):c.1687C>T)

Individual ID 00000396
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43093844G>A
Reference -
DB-ID BRCA1_000029 See all 5 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gonzalo Tabares-CEMA
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
BRCA1 NM_007294.3 +/+ 11 c.1687C>T r.(?) p.(Gln563*) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000449 DNA SEQ-NG;z-score-CNV Héritas - 21-jul-2017 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 28 Gonzalo Tabares-CEMA