Variant #0000234772 (NC_000017.10:g.41272205_41310294del, BRCA1(NM_007294.3):c.-33026_80+3829del)

Individual ID 00143465
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41272205_41310294del
DNA change (hg38) g.43120188_43158277del
Published as -33026_80+3829del36935
ISCN -
DB-ID BRCA1_004676 See all 2 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) Variant not found in online data sets
Owner Ans M.W. van den Ouweland
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 +/. _1_2i c.-33026_80+3829del r.? p.? -
NBR2 NR_003108.1 ./. - n.-5395_*13164del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144322 DNA SEQ - - BRCA1 1 Ans M.W. van den Ouweland