Genomic variant #0000639735

Individual ID 00282843
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.118811423G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID HSD17B4_000047
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Paton 2002, PubMed: Xiong 2015
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 +/+ 5i c.302+1G>C Pathogenic r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283993 DNA ? - - HSD17B4 1 LOVD-team, but with Curator vacancy