Variant #0000002334 (NC_000017.11:g.43090981G>C, BRCA1(NM_007294.3):c.4148C>G)

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
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 +/. - 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