Variant #0000002334 (NC_000017.11:g.43090981G>C, NM_007294.3:c.4148C>G (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.43090981G>C
Published as -
Reference Timothy R Rebbeck et al.(2018)
DB-ID BRCA1_000054 See all 5 reported entries
dbSNP ID rs80357071
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 2021-03-15 08:42:59 +08:00 (CST)
Date last edited 2021-08-01 12:31:35 +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.4148C>G - r.(?) p.(Ser1383*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000559 DNA SEQ BRCA1 48 Nur Aisyah Athirah