Variant #0000002488 (NC_000017.11:g.43067607C>T, NC_000017.11(NM_007294.3):c.5074+1G>A (BRCA1))

Individual ID 00000543
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43067607C>T
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA1_000117 See all 2 reported entries
dbSNP ID rs80358053
Frequency -
Variant remarks Mutation type: Intervening sequence
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-24 16:30:59 +08:00 (CST)
Date last edited 2021-08-01 12:32:48 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA1 NM_007294.3 +/. IVS17 c.5074+1G>A - r.spl? p.? - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000591 DNA SEQ BRCA1 11 Nur Aisyah Athirah