Genomic variant #0000139994

Individual ID 00087080
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118811533G>A
DNA change (hg38) g.119475838G>A
Published as NM_001199291:c.392G>A (Arg131His)
ISCN -
DB-ID HSD17B4_000007 See all 3 reported entries
Variant remarks -
Reference PubMed: Ahmed 2015, Journal: Ahmed 2015
ClinVar ID -
dbSNP ID rs25640
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.36385 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 -/. 6 c.317G>A - r.(?) p.(Arg106His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000087217 DNA SEQ;SEQ-NG - - CLPP, HSD17B4 3 Johan den Dunnen