RGD:40906653 Rat Genome Database

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Variant: RGD:40906653 -  Homo sapiens

RGD ID: 40906653
RS ID: rs373738626
ClinVar ID: CV977525
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 24,144,034
GRCh38 1 23,817,544
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.184A>G
NM_000191.3:c.184A>G
NP_001159531.1:p.Met62Val
NC_000001.11:g.23817544T>C
More... 		05/02/2022 missense variant uncertain significance 3-hydroxy-3-methylglutaric aciduria; Defect in leucine metabolism; HMG CoA lyase deficiency; HMGCL DEFICIENCY; Hydroxymethylglutaric aciduria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HMGCL
Accession:NM_001166059
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDVLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALA
VHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALN
RKTSSKVAQATCKL*

Gene Symbol:HMGCL
Accession:NM_000191
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDVLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSA
NISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQ
ALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQ
ATCKL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001280068 CLINVAR
dbSNP (RS) rs373738626 CLINVAR
MedGen C0268601 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR