RGD:597760772 Rat Genome Database

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Variant: RGD:597760772 -  Homo sapiens

RGD ID: 597760772
ClinVar ID: CV3689337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPHL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 93,844,117
GRCh38 11 94,110,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001098672.2:c.3094T>C
NC_000011.10:g.94110951T>C
NC_000011.9:g.93844117T>C
NM_001098672.1:c.3094T>C
More... 		12/03/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004925769 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HEPHL1 CLINVAR
OMIM 618455 CLINVAR