RGD:597697078 Rat Genome Database

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Variant: RGD:597697078 -  Homo sapiens

RGD ID: 597697078
ClinVar ID: CV3668935
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 78,001,685
GRCh38 1 77,536,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_012093.4:c.1504G>A
NM_174858.3:c.1582G>A
NC_000001.11:g.77536000G>A
NC_000001.10:g.78001685G>A
More... 		09/24/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004915948 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AK5 CLINVAR
OMIM 608009 CLINVAR