Variant #0000001943 (NC_000017.11:g.61685986A>G, BRIP1(NM_032043.2):c.2755T>C)

Individual ID 00000184
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.61685986A>G
Reference -
DB-ID BRIP1_000002 See all 28 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-Hospital Universitario de Mendoza
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
BRIP1 NM_032043.2 -/-? 19 c.2755T>C p.(Ser919Pro) Hetero BRCA1 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000209 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (12 genes) 23-may-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 21 Alejandra Mampel-Hospital Universitario de Mendoza