RGD:597782280 Rat Genome Database

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Variant: RGD:597782280 -  Homo sapiens

RGD ID: 597782280
ClinVar ID: CV3689162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HELQ  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 84,374,657
GRCh38 4 83,453,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001297756.2:c.-766G>A
NM_001297757.2:c.-796G>A
NM_001297758.2:c.628G>A
NM_001297755.2:c.739G>A
More... 		07/31/2024 5 prime utr variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004931138 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HELQ CLINVAR
OMIM 606769 CLINVAR