Variant #0000000558 (NC_000017.11:g.43094549_43094550del, BRCA1(NM_007294.3):c.981_982del)

Individual ID 00000099
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_43094550del
Published as -
Reference Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar
DB-ID BRCA1_000053 See all 2 reported entries
dbSNP ID rs80357772
Frequency 1/14
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
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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.981_982del - r.(?) p.(Cys328*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000114 DNA ? BRCA1 3 Nuur Athirah Binti Mohd Daud