Variant #0000222187 (NC_000017.10:g.?, BRCA1(NM_007294.3):c.?)

Individual ID 00132160
Chromosome 17
Allele Parent #1
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.?
DNA change (hg38) -
Published as 5154delTTTTC
ISCN -
DB-ID BRCA1_000000 See all 8 reported entries
Variant remarks -
Reference PubMed: Briceno-Balcazar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 +/. (17_18) c.? r.(?) p.(fs*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000132997 DNA SEQ blood - BRCA1, BRCA2 1 Johan den Dunnen