Variant #0000659732 (NC_000023.10:g.79947367C>A, BRWD3(NM_153252.4):c.3436G>T)

Individual ID 00295944
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.79947367C>A
DNA change (hg38) g.80691868C>A
Published as -
ISCN -
DB-ID BRWD3_000088
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2020-03-30 10:44:55 +02:00 (CEST)
Date last edited 2020-04-02 12:41:04 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRWD3 NM_153252.4 +?/. - c.3436G>T r.(?) p.(Glu1146*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297116 DNA SEQ-NG-S - - - 1 Andreas Laner