Variant #0000030106 (NC_000017.10:g.41267809G>C, BRCA1(NM_007294.3):c.81-13C>G)

Individual ID 00011173
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
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 Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner Ans M.W. van den Ouweland
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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.(spl?) p.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011087 DNA SEQ ? - BRCA1, BRCA2 3 Ans M.W. van den Ouweland