Variant #0000608757 (NC_000003.11:g.47883161G>C, DHX30(NM_138615.2):c.723G>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47883161G>C
DNA change (hg38) g.47841671G>C
Published as DHX30(NM_001330990.2):c.639G>C (p.Q213H)
ISCN -
DB-ID DHX30_000013
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHX30 NM_138615.2 ?/. - c.723G>C r.(?) p.(Gln241His)