Variant #0000000614 (NC_000017.11:g.43067610G>T, NM_007294.3:c.5072C>A (BRCA1))

Individual ID 00000108
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43067610G>T
Published as -
Reference P S Ng et al. (2016), dbSNP, ClinVar
DB-ID BRCA1_000070 See all 2 reported entries
dbSNP ID rs80357034
Frequency 1/5
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 15:37:52 +08:00 (CST)
Date last edited 2021-08-22 10:59:45 +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 +?/. 17 c.5072C>A - r.(?) p.(Thr1691Lys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000123 DNA SEQ BRCA1 4 Nuur Athirah Binti Mohd Daud