Variant #0000382841 (NC_000007.13:g.2583390dup, BRAT1(NM_152743.3):c.638dup)

Individual ID 00168942
Chromosome 7
Allele Paternal (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.2583390dup
DNA change (hg38) g.2543756dup
Published as 638dupA
ISCN -
DB-ID BRAT1_000015 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) Variant not found in online data sets
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 +/. 5 c.638dup r.(?) p.(Val214Glyfs*189)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000169814 DNA SEQ-NG-I peripheral blood - BRAT1 2 Enza Maria Valente