Variant #0000000556 (NC_000017.11:g.43051067dup, NM_007294.3:c.5328dup (BRCA1))

Individual ID 00000098
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43051067dup
Published as -
Reference Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar
DB-ID BRCA1_000051 See all 2 reported entries
dbSNP ID rs80357751
Frequency 2/7
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-28 10:31:03 +08:00 (CST)
Date last edited 2021-08-22 16:32:22 +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.5328dup - r.(?) p.(Thr1777Hisfs*53) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000113 DNA ? BRCA1 2 Nuur Athirah Binti Mohd Daud