Variant #0000195998 (NC_000017.10:g.41267809G>C, BRCA1(NM_007294.3):c.81-13C>G)

Individual ID 00120742
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
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 rs56328013
Origin Germline
Segregation -
Frequency 1/1900 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner Angela Solano & F Cardoso
Database submission license No license selected
Created by Angela Solano & F Cardoso
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     
0000121242 DNA SEQ - - BRCA1, BRCA2 9 Angela Solano & F Cardoso