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 MYH2_000008 See all 62 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 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     
0000227843 DNA SEQ - - BRCA1 1 Johan den Dunnen