Variant #0000400770 (NC_000007.13:g.2583390dup, BRAT1(NM_152743.3):c.638dup)

Individual ID 00177003
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.2583390dup
DNA change (hg38) g.2543756dup
Published as -
ISCN -
DB-ID BRAT1_000015 See all 3 reported entries
Variant remarks -
Reference PubMed: Papuc 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anaïs Begemann
Database submission license No license selected
Created by Anaïs Begemann
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     
0000177895 DNA SEQ-NG-I blood WES - 2 Anaïs Begemann