Variant #0000000592 (NC_000017.11:g.43092317del, NM_007294.3:c.3214del (BRCA1))

Individual ID 00000104
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43092317del
Published as -
Reference Xiaohong R Yang et al. (2017), dbSNP, ClinVar
DB-ID BRCA1_000059
dbSNP ID rs80357923
Frequency 2/13
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 2020-11-01 09:57:28 +08:00 (CST)
Date last edited 2021-08-23 09:44:34 +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.3214del - r.(?) p.(Leu1072*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000119 DNA MLPA;SEQ BRCA1 9 Nuur Athirah Binti Mohd Daud