RGD:407521546 Rat Genome Database

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Variant: RGD:407521546 -  Homo sapiens

RGD ID: 407521546
ClinVar ID: CV3437073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPHL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 93,844,969
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098672.2:c.3389C>T
NC_000011.10:g.94111803C>T
NC_000011.9:g.93844969C>T
NM_001098672.1:c.3389C>T
More... 		04/15/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004630398 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HEPHL1 CLINVAR
OMIM 618455 CLINVAR