RGD:597760746 Rat Genome Database

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Variant: RGD:597760746 -  Homo sapiens

RGD ID: 597760746
ClinVar ID: CV3689331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPHL1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 93,834,423
GRCh38 11 94,101,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001098672.2:c.2497A>G
NC_000011.10:g.94101257A>G
NC_000011.9:g.93834423A>G
NM_001098672.1:c.2497A>G
More... 		10/26/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004925764 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HEPHL1 CLINVAR
OMIM 618455 CLINVAR