Variant #0000763357 (NC_000003.11:g.47889728G>A, DHX30(NM_138615.2):c.2345G>A)

Individual ID 00361739
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47889728G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID DHX30_000011 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Davor Lessel
Database submission license No license selected
Created by Davor Lessel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHX30 NM_138615.2 +/. - c.2345G>A r.(?) p.(Arg782Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362967 DNA SEQ-NG - - - 1 Davor Lessel