Variant #0000382839 (NC_000007.13:g.2580613C>T, BRAT1(NM_152743.3):c.1395G>A)

Individual ID 00168941
Chromosome 7
Allele Maternal (confirmed)
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.2580613C>T
DNA change (hg38) g.2540979C>T
Published as -
ISCN -
DB-ID BRAT1_000016 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Enza Maria Valente
Database submission license No license selected
Created by Enza Maria Valente
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 +/. 10 c.1395G>A r.(1323_1396del) p.(Pro442Serfs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000169813 DNA SEQ-NG-I peripheral blood - BRAT1 2 Enza Maria Valente