Genomic variant #0000639771

Individual ID 00282879
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.118860923C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID HSD17B4_000080
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD-team, but with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 +/+ 18 c.1516C>T Pathogenic r.(?) p.(Arg506Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284029 DNA ? - - HSD17B4 1 LOVD-team, but with Curator vacancy