RGD:407456572 Rat Genome Database

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Variant: RGD:407456572 -  Homo sapiens

RGD ID: 407456572
ClinVar ID: CV3419217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CKAP2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 53,035,385
GRCh38 13 52,461,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286686.2:c.280A>C
NM_001286687.2:c.424A>C
NM_018204.5:c.424A>C
NM_001098525.3:c.427A>C
More... 		05/23/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004610777 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CKAP2 CLINVAR
OMIM 611569 CLINVAR