Variant #0000468105 (NC_000017.10:g.?, BRCA1(NM_007294.3):c.?)

Individual ID 00226755
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as 548-37A>T, IVS8-37T>A
ISCN -
DB-ID BRCA1_000000 See all 20 reported entries
Variant remarks -
Reference PubMed: Bhaskaran 2019 - (refs 45)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/139 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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     
0000227843 DNA SEQ - - BRCA1 1 Johan den Dunnen