Variant #0000002630 (NC_000017.11:g.43092418T>C, NM_007294.3:c.3113A>G (BRCA1))

Individual ID 00000591
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43092418T>C
Published as -
Reference Mohamed Saleem et al.(2018)
DB-ID BRCA1_000002 See all 8 reported entries
dbSNP ID rs16941
Frequency -
Variant remarks -
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
Date created 2021-04-21 10:08:05 +08:00 (CST)
Date last edited 2021-08-01 12:33:34 +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 +/. 11 c.3113A>G - r.(?) p.(Glu1038Gly) - Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000656 DNA PCR BRCA1 11 Nur Aisyah Athirah