RGD:13523786 Rat Genome Database

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Variant: RGD:13523786 -  Homo sapiens

RGD ID: 13523786
RS ID: rs1482487462
ClinVar ID: CV492533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 24,134,816
GRCh38 1 23,808,326
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.22134T>G
NC_000001.11:g.23808326A>C
NC_000001.10:g.24134816A>C
NM_000191.3:c.562-3T>G
More... 		04/13/2017 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMGCL
Accession:NM_001166059
Location:INTRON

Gene Symbol:HMGCL
Accession:NM_000191
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000593440 CLINVAR
dbSNP (RS) rs1482487462 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 613898 CLINVAR