RGD:407521308 Rat Genome Database

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Variant: RGD:407521308 -  Homo sapiens

RGD ID: 407521308
ClinVar ID: CV3440493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HELQ  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 84,358,125
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297755.2:c.1733G>A
NM_133636.5:c.1934G>A
NM_001297757.2:c.302G>A
NM_001297756.2:c.443G>A
More... 		03/29/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004630325 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HELQ CLINVAR
OMIM 606769 CLINVAR