RGD:28896932 Rat Genome Database

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Variant: RGD:28896932 -  Homo sapiens

RGD ID: 28896932
RS ID: rs1470010250
ClinVar ID: CV864139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 24,128,587
GRCh38 1 23,802,097
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.*366G>A
NG_013061.1:g.28363G>A
NG_007068.1:g.3708G>A
NC_000001.11:g.23802097C>T
More... 		01/12/2018 3 prime utr 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:3UTRS;EXON

Gene Symbol:HMGCL
Accession:NM_000191
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102408 CLINVAR
dbSNP (RS) rs1470010250 CLINVAR
MedGen C0268601 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR