Variant #0000719467 (NC_000003.11:g.47887796C>T, DHX30(NM_138615.2):c.1234C>T)

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.47887796C>T
DNA change (hg38) -
Published as DHX30(NM_001330990.1):c.1150C>T (p.R384C)
ISCN -
DB-ID DHX30_000016
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) 1.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAP4 NM_002375.4 ?/. - c.*6726G>A r.(=) p.(=)
DHX30 NM_138615.2 ?/. - c.1234C>T r.(?) p.(Arg412Cys)