RGD:407510586 Rat Genome Database

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Variant: RGD:407510586 -  Homo sapiens

RGD ID: 407510586
ClinVar ID: CV3440502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HELQ  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 84,338,015
GRCh38 4 83,416,862
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297757.2:c.1435C>G
NM_001297756.2:c.1576C>G
NM_001297755.2:c.2866C>G
NM_133636.5:c.3067C>G
More... 		05/13/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004626168 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HELQ CLINVAR
OMIM 606769 CLINVAR