Genomic variant #0000629343

Individual ID 00274164
Chromosome 5
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118813129C>T
DNA change (hg38) g.119477434C>T
Published as -
ISCN -
DB-ID HSD17B4_000036
Variant remarks -
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/113 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 +/. - c.367C>T - r.(?) p.(His123Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275319 DNA SEQ;SEQ-NG - WES HSD17B4 2 Johan den Dunnen