Variant #0000001296 (NC_000017.11:g.43091983T>C, BRCA1(NM_007294.3):c.3548A>G)

Individual ID 00000263
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43091983T>C
Published as 3667A>G
Reference P Balraj et al. (2002), dbSNP, ClinVar
DB-ID BRCA1_000003 See all 8 reported entries
dbSNP ID rs16942
Frequency 1/7
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.3548A>G 3667A>G r.(?) p.(Lys1183Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000278 DNA PCR BRCA1 7 Nuur Athirah Binti Mohd Daud