rs1736344235 Rat Genome Database

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Variant: rs1736344235 -  Homo sapiens

RGD ID: 28878159
RS ID: rs1736344235
ClinVar ID: CV889854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADH  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 108,954,447
GRCh38 4 108,033,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001331027.2:c.837T>G
NP_001171634.3:p.Asp292Glu
NM_005327.4:c.825T>G
NM_005327.7:c.825T>G
More... 		01/12/2018 missense variant likely benign|uncertain significance 3-alpha hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemia hypoglycemia; Hyperinsulinemic hypoglycemia (disease); Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HADH
Accession:NM_005327
Location:EXON

Gene Symbol:HADH
Accession:NM_001184705
Location:EXON

Gene Symbol:HADH
Accession:NM_001331027
Location:EXON

Gene Symbol:HADH
Accession:XR_007096395
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:29280746   PMID:34055426   PMID:34547194  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001148594 CLINVAR
  RCV001148595 CLINVAR
  RCV003222235 CLINVAR
dbSNP (RS) rs1736344235 CLINVAR
MedGen C1291230 CLINVAR
  C1864903 CLINVAR
  C1864948 CLINVAR
NCBI Gene HADH CLINVAR
OMIM 231530 CLINVAR
  601609 CLINVAR
  609975 CLINVAR
SNOMED CT 124122005 CLINVAR