Variant #0000119942 (NC_000017.10:g.41215948G>A, BRCA1(NM_007294.3):c.5095C>T)

Individual ID 00074676
Chromosome 17
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41215948G>A
DNA change (hg38) g.43063931G>A
Published as -
ISCN -
DB-ID BRCA1_000387 See all 75 reported entries
Variant remarks -
Reference PubMed: Sawyer et al. 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Arleen D. Auerbach
Database submission license No license selected
Created by Arleen D. Auerbach
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074844 DNA SEQ-NG whole blood - - 2 Arleen D. Auerbach