Genomic variant #0000086582

Individual ID 00056385
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118788316G>A
DNA change (hg38) g.119452621G>A
Published as -
ISCN -
DB-ID HSD17B4_000004 See all 7 reported entries
Variant remarks -
Reference PubMed: Demain 2016, Journal: Demain 2016
ClinVar ID -
dbSNP ID rs137853096
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Leigh Demain
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 +/. 1 c.46G>A - r.(46g>a) p.(Gly16Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056342 DNA SEQ-NG - - - 2 Leigh Demain
0000056343 DNA SEQ - - HSD17B4 2 Leigh Demain