Variant #0000002492 (NC_000017.11:g.43051067dupG, BRCA1(NM_007294.3):c.5328dupC)

Individual ID 00000546
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43051067dupG
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA1_000101 See all 2 reported entries
dbSNP ID rs80357751
Frequency -
Variant remarks Mutation type: Insertion - 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 +/. 21 c.5328dupC - r.(?) p.(Thr1777Hisfs*53) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000594 DNA SEQ BRCA1 9 Nur Aisyah Athirah