RGD:13784986 Rat Genome Database

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Variant: RGD:13784986 -  Homo sapiens

RGD ID: 13784986
RS ID: rs1553131320
ClinVar ID: CV540999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 24,128,955
GRCh38 1 23,802,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013061.1:g.27995T>C
NC_000001.10:g.24128955A>G
NC_000001.11:g.23802465A>G
NP_000182.2:p.Ter326Arg
More... 		12/14/2017 stop lost 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: * to R (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALA
VHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALN
RKTSSKVAQATCKLR

Gene Symbol:HMGCL
Accession:NM_000191
Location:EXON
Amino Acid Prediction: * to R (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSA
NISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQ
ALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQ
ATCKLR
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000671491 CLINVAR
dbSNP (RS) rs1553131320 CLINVAR
MedGen C0268601 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR