RGD:8598839 Rat Genome Database

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Variant: RGD:8598839 -  Homo sapiens

RGD ID: 8598839
RS ID: rs121964997
ClinVar ID: CV26996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 24,147,022
GRCh38 1 23,820,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_013061.1:g.9928G>A
NC_000001.11:g.23820532C>T
NC_000001.10:g.24147022C>T
P35914:p.Arg41Gln
More... 		12/11/2019 missense|missense variant pathogenic neonatal/infancy 3-hydroxy-3-methylglutaric aciduria; Defect in leucine metabolism; Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; HMG CoA lyase deficiency; HMGCL DEFICIENCY; Hydroxymethylglutaric aciduria; LCHAD Deficiency; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HMGCL
Accession:NM_000191
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPQDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSA
NISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQ
ALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQ
ATCKL*

Gene Symbol:HMGCL
Accession:NM_001166059
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPQDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALA
VHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALN
RKTSSKVAQATCKL*
Variant Samples
Additional References at PubMed
PMID:9463337   PMID:14518825   PMID:15122894   PMID:17173698   PMID:25741868   PMID:25741914   PMID:28488182   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012735 CLINVAR
  RCV000078342 CLINVAR
  RCV001831566 CLINVAR
dbSNP (RS) rs121964997 CLINVAR
MedGen C0268601 CLINVAR
  C3661900 CLINVAR
  C3711645 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  609016 CLINVAR
  613898 CLINVAR
OMIM Allele 613898.0004 CLINVAR
SNOMED CT 124611007 CLINVAR