Variant #0000409883 (NC_000017.10:g.41277460A>G, BRCA1(NM_007294.3):c.-192T>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
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 expression cloning luciferase assay 0.7x decreased (MCF7 cells)
Reference PubMed: Burke 2018, Journal: Burke 2018
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
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
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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.(=) -