Variant #0000709528 (NC_000007.13:g.2583390dup, BRAT1(NM_152743.3):c.638dup)

Individual ID 00325074
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) -
Published as 638dupA
ISCN -
DB-ID BRAT1_000010 See all 9 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 Sara Nuovo
Database submission license No license selected
Created by Sara Nuovo
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 +/. - c.638dup r.(?) p.(Val214Glyfs*189)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326283 DNA SEQ-NG-I blood - - 2 Sara Nuovo