RGD:13526700 Rat Genome Database

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Variant: RGD:13526700 -  Homo sapiens

RGD ID: 13526700
RS ID: rs765736425
ClinVar ID: CV496351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSD17B4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 118,814,730
GRCh38 5 119,479,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199291.1:c.697+14C>T
NC_000005.10:g.119479035C>T
NC_000005.9:g.118814730C>T
NM_001199292.2:c.568+14C>T
More...
06/02/2016 intron variant likely benign AllHighlyPenetrant; D-bifunctional enzyme deficiency; D-bifunctional protein deficiency; DBP deficiency; Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance; Perrault syndrome; Pseudo Zellweger syndrome

Variant Details
Variant Transcripts
Gene Symbol:HSD17B4
Accession:NM_000414
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001199292
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001199291
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001292027
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001292028
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374503
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374499
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374502
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374500
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374501
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374498
Location:INTRON

Gene Symbol:HSD17B4
Accession:NM_001374497
Location:INTRON

Gene Symbol:HSD17B4
Accession:NR_164654
Location:INTRON;NON-CODING

Gene Symbol:HSD17B4
Accession:NR_164653
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000604494 CLINVAR
  RCV003767430 CLINVAR
dbSNP (RS) rs765736425 CLINVAR
MedGen C0342870 CLINVAR
  CN169374 CLINVAR
NCBI Gene HSD17B4 CLINVAR
OMIM 261515 CLINVAR
  601860 CLINVAR
SNOMED CT 238068007 CLINVAR