Variant #0000788921 (NC_000007.13:g.2583223C>G, BRAT1(NM_152743.3):c.803+1G>C)

Individual ID 00375646
Chromosome 7
Allele Parent #2
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.2583223C>G
DNA change (hg38) g.2543589C>G
Published as -
ISCN -
DB-ID BRAT1_000045
Variant remarks -
Reference PubMed: Srivastava 2014
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 +?/. - c.803+1G>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376843 DNA SEQ-NG - WES - 2 Johan den Dunnen