Variant #0000044527 (NC_000017.10:g.59937152C>A, BRIP1(NM_032043.2):c.205+5G>T)

Individual ID 00022306
Chromosome 17
Allele Parent #2
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.59937152C>A
DNA change (hg38) g.61859791C>A
Published as -
ISCN -
DB-ID BRIP1_000004 See all 4 reported entries
Variant remarks -
Reference PubMed: Levitus 2005
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Arleen D. Auerbach
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 +/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022304 DNA SEQ - - BRIP1 2 Arleen D. Auerbach