Variant #0000833883 (NC_000017.10:g.41277375T>A, BRCA1(NM_007294.3):c.-107A>T)

Individual ID 00399617
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41277375T>A
DNA change (hg38) g.43125358T>A
Published as -
ISCN -
DB-ID BRCA1_005077 See all 3 reported entries
Variant remarks -
Reference PubMed: Evans 2022
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 +/. - c.-107A>T r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400860 DNA SEQ;SEQ-NG - gene panel - 1 Johan den Dunnen