Variant #0000847515 (NC_000007.13:g.2583390dup, BRAT1(NM_152743.3):c.638_639insA)

Individual ID 00408974
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2583390dup
DNA change (hg38) g.2543756dup
Published as BRAT1 c.638_639insA
ISCN -
DB-ID BRAT1_000010 See all 9 reported entries
Variant remarks homozygous
Reference PubMed: Puffenberger 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency population-specific allele frequency: 0.50% (2/402)
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 +?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000410239 DNA arraySNP;SEQ-NG;SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel BRAT1 1 LOVD