Variant #0000002317 (NC_000017.11:g.43106534C>G, NC_000017.11(NM_007294.3):c.135-1G>C (BRCA1))

Individual ID 00000512
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43106534C>G
Published as -
Reference Timothy R Rebbeck et al.(2018)
DB-ID BRCA1_000084 See all 4 reported entries
dbSNP ID rs80358158
Frequency 3/72 families
Variant remarks -
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 2021-03-14 16:52:24 +08:00 (CST)
Date last edited 2021-09-12 13:13:22 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA1 NM_007294.3 +/. - c.135-1G>C - r.spl? p.? - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000559 DNA SEQ BRCA1 48 Nur Aisyah Athirah