Variant #0000002472 (NC_000017.11:g.43094549_43094550delAT, BRCA1(NM_007294.3):c.981_982delAT)

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.43094549_43094550delAT
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA1_000010 See all 3 reported entries
dbSNP ID rs80357772
Frequency -
Variant remarks Mutation type: Deletion - frameshift
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.981_982delAT - r.(?) p.(Cys328*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000592 DNA SEQ BRCA1 14 Nur Aisyah Athirah