RGD:597757632 Rat Genome Database

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Variant: RGD:597757632 -  Homo sapiens

RGD ID: 597757632
ClinVar ID: CV3591214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPIE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,214,752
GRCh38 1 39,749,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1053t1:c.686C>T
LRG_1053t2:c.686C>T
NM_001319293.2:c.647C>T
NM_001195007.2:c.686C>T
More... 		07/25/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004848363 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PPIE CLINVAR
OMIM 602435 CLINVAR