RGD:28893586 Rat Genome Database

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Variant: RGD:28893586 -  Homo sapiens

RGD ID: 28893586
RS ID: rs956800775
ClinVar ID: CV892658
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSD17B4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 118,877,812
GRCh38 5 119,542,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000414.4:c.*123A>G
NM_001199291.3:c.*123A>G
NM_001199292.2:c.*123A>G
NM_001292027.2:c.*123A>G
More... 		01/12/2018 3 prime utr variant uncertain significance D-bifunctional enzyme deficiency; D-bifunctional protein deficiency; DBP deficiency; GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS; Pseudo Zellweger syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSD17B4
Accession:NM_001199292
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001292028
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374502
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374500
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374499
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374498
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001292027
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374503
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_000414
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374501
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001374497
Location:3UTRS;EXON

Gene Symbol:HSD17B4
Accession:NM_001199291
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001153596 CLINVAR
  RCV001153597 CLINVAR
dbSNP (RS) rs956800775 CLINVAR
MedGen C0342870 CLINVAR
  C4551721 CLINVAR
NCBI Gene HSD17B4 CLINVAR
OMIM 233400 CLINVAR
  261515 CLINVAR
  601860 CLINVAR
SNOMED CT 238068007 CLINVAR