Variant #0000004711 (NC_000017.11:g.43099914G>A, NC_000017.11(NM_007294.3):c.442-34C>T (BRCA1))

Individual ID 00000596
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43099914G>A
Reference -
DB-ID BRCA1_000012 See all 149 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 2018-09-07 12:02:13 -03:00 (-03)
Date last edited N/A
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA1 NM_007294.3 -/- 7i c.442-34C>T r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000683 DNA SEQ-NG CEMIC - 14-may-2018 Specific pathology panel BRCA1, BRCA2 8 Lina Nuñez-Private Practice

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