Variant #0000680961 (NC_000017.10:g.59934592C>G, BRIP1(NM_032043.2):c.206G>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.59934592C>G
DNA change (hg38) -
Published as BRIP1(NM_032043.2):c.206G>C (p.G69A)
ISCN -
DB-ID BRIP1_000216
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_NKI
Database submission license No license selected
Created by VKGL-NL_NKI
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRIP1 NM_032043.2 ?/. - c.206G>C r.(?) p.(Gly69Ala) -