RGD:407510589 Rat Genome Database

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Variant: RGD:407510589 -  Homo sapiens

RGD ID: 407510589
ClinVar ID: CV3440503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HELQ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 84,358,038
GRCh38 4 83,436,885
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001297755.2:c.1820C>T
NM_133636.5:c.2021C>T
NM_001297757.2:c.389C>T
NM_001297756.2:c.530C>T
More... 		05/29/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004626169 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HELQ CLINVAR
OMIM 606769 CLINVAR