Variant #0000239320 (NC_000017.10:g.41267809G>C, BRCA1(NM_007294.3):c.81-13C>G)

Individual ID 00145777
Chromosome 17
Allele Unknown
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.41267809G>C
DNA change (hg38) g.43115792G>C
Published as -
ISCN -
DB-ID BRCA1_000020 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner Hans Gille
Database submission license No license selected
Created by Merel Braspenning
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/. 2i c.81-13C>G r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000146634 DNA MLPA;SEQ - - BRCA1 2 Hans Gille