Variant #0000763368 (NC_000003.11:g.47888040G>A, DHX30(NM_138615.2):c.1478G>A)

Individual ID 00361750
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47888040G>A
DNA change (hg38) g.47846550G>A
Published as -
ISCN -
DB-ID DHX30_000003 See all 5 reported entries
Variant remarks -
Reference PubMed: Lessel 2017
ClinVar ID -
dbSNP ID -
Origin De novo
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     
DHX30 NM_138615.2 +/. - c.1478G>A r.(?) p.(Arg493His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362978 DNA SEQ;SEQ-NG - trio WES DHX30 1 Johan den Dunnen