Variant #0000002481 (NC_000017.11:g.43091870C>A, BRCA1(NM_007294.3):c.3661G>T)

Individual ID 00000544
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43091870C>A
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA1_000078 See all 3 reported entries
dbSNP ID rs80357310
Frequency -
Variant remarks Mutation type: Nonsense
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
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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 +/. 11 c.3661G>T - r.(?) p.(Glu1221*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000592 DNA SEQ BRCA1 14 Nur Aisyah Athirah