RGD:597782314 Rat Genome Database

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Variant: RGD:597782314 -  Homo sapiens

RGD ID: 597782314
ClinVar ID: CV3689172
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HELQ  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 84,375,065
GRCh38 4 83,453,912
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001297756.2:c.-1174T>G
NM_001297757.2:c.-1204T>G
NM_001297758.2:c.220T>G
NM_001297755.2:c.331T>G
More... 		11/27/2024 5 prime utr variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004931147 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HELQ CLINVAR
OMIM 606769 CLINVAR