Variant #0000409740 (NC_000017.10:g.41277460A>G, BRCA1(NM_007294.3):c.-192T>C)

Individual ID 00183912
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41277460A>G
DNA change (hg38) g.43125443A>G
Published as -
ISCN -
DB-ID BRCA1_004585 See all 5 reported entries
Variant remarks not in 1103 controls
Reference PubMed: Burke 2018, Journal: Burke 2018
ClinVar ID -
dbSNP ID rs113323025
Origin Germline
Segregation -
Frequency 4/6475 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lez J Burke
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 -/- 1 c.-192T>C r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184879 DNA SEQ - promoter/5'UTR BRCA1 1 Lez J Burke