RGD:597747313 Rat Genome Database

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Variant: RGD:597747313 -  Homo sapiens

RGD ID: 597747313
ClinVar ID: CV3584424
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRAMEF5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 13,111,647
GRCh38 1 13,260,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001013407.5:c.368G>C
NC_000001.11:g.13260302G>C
NC_000001.10:g.13111647C>G
NM_001013407.1:c.368G>C
More... 		08/14/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004845789 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PRAMEF5 CLINVAR