Variant #0000763360 (NC_000003.11:g.47889772C>T, NM_138615.2:c.2389C>T (DHX30))

Individual ID 00361742
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47889772C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID DHX30_000027
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Davor Lessel
Database submission license No license selected
Created by Davor Lessel
Date created 2021-04-08 15:40:52 +02:00 (CEST)
Date last edited 2021-04-09 09:22:24 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHX30 NM_138615.2 +/. - c.2389C>T r.(?) p.(Arg797*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362970 DNA SEQ-NG - - - 1 Davor Lessel


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