Variant #0000002468 (NC_000017.11:g.43099817G>A, NM_007294.3:c.505C>T (BRCA1))

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.43099817G>A
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA1_000094 See all 3 reported entries
dbSNP ID rs80357133
Frequency -
Variant remarks Mutattion type: Nonsense
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 2021-03-24 15:19:19 +08:00 (CST)
Date last edited 2021-08-01 12:33:13 +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 +/. 8 c.505C>T - r.(?) p.(Gln169*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000594 DNA SEQ BRCA1 9 Nur Aisyah Athirah