Variant #0000458617 (NC_000017.10:g.?, BRCA1(NM_007294.3):c.?)

Individual ID 00225293
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as 5090_5093delGTTA (Leu1697fs)
ISCN -
DB-ID BRCA1_000000 See all 8 reported entries
Variant remarks -
Reference PubMed: Jalkh 2017, Journal: Laitman 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Eitan Friedman
Database submission license No license selected
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. - c.? r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226372 DNA SEQ - - BRCA1 1 Eitan Friedman