Variant #0000274998 (NC_000016.9:g.72130254C>T, NM_014003.3:c.198C>T (DHX38))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.72130254C>T
DNA change (hg38) g.72096355C>T
Published as DHX38(NM_014003.3):c.198C>T (p.D66=)
ISCN -
DB-ID DHX38_000003
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) 0.00017 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-10 12:25:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DHX38 NM_014003.3 -?/. - c.198C>T r.(?) p.(Asp66=)
TXNL4B NM_017853.2 -?/. - c.-3026G>A r.(?) p.(=)


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