RGD:597629753 Rat Genome Database

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Variant: RGD:597629753 -  Homo sapiens

RGD ID: 597629753
ClinVar ID: CV3716303
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WRAP53  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 7,605,734
GRCh38 17 7,702,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_375t1:c.1028G>A
NM_001143990.2:c.1028G>A
NM_001143991.2:c.1028G>A
NM_001143992.2:c.1028G>A
More... 		03/09/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3716303Humanautosomal recessive dyskeratosis congenita 3  IAGP 8554872ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV005022776 CLINVAR
MedGen C3151442 CLINVAR
NCBI Gene WRAP53 CLINVAR
OMIM 612661 CLINVAR
  613988 CLINVAR