RGD:402507324 Rat Genome Database

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Variant: RGD:402507324 -  Homo sapiens

RGD ID: 402507324
ClinVar ID: CV2908350
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 108,931,059
GRCh38 4 108,009,903
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184705.4:c.261+16C>G
NM_005327.7:c.261+16C>G
NM_001331027.2:c.273+16C>G
NG_008156.3:g.25016C>G
More... 		10/15/2023 intron variant likely benign 3-alpha hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxylacyl-CoA dehydrogenase deficiency; Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HADH
Accession:NM_001331027
Location:INTRON

Gene Symbol:HADH
Accession:NM_005327
Location:INTRON

Gene Symbol:HADH
Accession:NM_001184705
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003509418 CLINVAR
MedGen C1291230 CLINVAR
NCBI Gene HADH CLINVAR
OMIM 231530 CLINVAR
  601609 CLINVAR
SNOMED CT 124122005 CLINVAR