Variant #0000592702 (NC_000017.10:g.59938877A>C, BRIP1(NM_032043.2):c.24T>G)

Individual ID 00261304
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.59938877A>C
DNA change (hg38) g.61861516A>C
Published as -
ISCN -
DB-ID BRIP1_000179
Variant remarks -
Reference PubMed: Momozawa 2019, Journal: Momozawa 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/12365 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yukihide Momozawa
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRIP1 NM_032043.2 +/. - c.24T>G r.(?) p.(Tyr8*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000262409 DNA SEQ - - BRIP1 1 Yukihide Momozawa