RGD:15105963 Rat Genome Database

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Variant: RGD:15105963 -  Homo sapiens

RGD ID: 15105963
RS ID: rs139102957
ClinVar ID: CV761791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 24,140,802
GRCh38 1 23,814,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166059.2:c.348+2363C>T
NM_000191.3:c.375C>T
NG_013061.1:g.16148C>T
NC_000001.11:g.23814312G>A
More... 		04/11/2023 intron variant benign|likely benign|uncertain significance 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: V to V (synonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSA
NISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQ
ALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQ
ATCKL*

Gene Symbol:HMGCL
Accession:NM_001166059
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000937693 CLINVAR
  RCV001273183 CLINVAR
  RCV001576568 CLINVAR
dbSNP (RS) rs139102957 CLINVAR
MedGen C0268601 CLINVAR
  C3661900 CLINVAR
  C3711645 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  609016 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR