RGD:8565916 Rat Genome Database

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Variant: RGD:8565916 -  Homo sapiens

RGD ID: 8565916
RS ID: rs121918552
ClinVar ID: CV31956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYCS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 25,163,615
GRCh38 7 25,123,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_023438.1:g.6366G>A
NC_000007.14:g.25123996C>T
NC_000007.13:g.25163615C>T
NP_061820.1:p.Gly42Ser
More... 		02/01/2019 missense|missense variant pathogenic|likely pathogenic all ages|variable THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYCS
Accession:NM_018947
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDVEKGKKIFIMKCSQCHTVEKGGKHKTGPNLHGLFGRKTSQAPGYSYTAANKNKGIIWGEDTLMEYLENPKKYIPGTK
MIFVGIKKKEERADLIAYLKKATNE*
Variant Samples
Additional References at PubMed
PMID:18345000   PMID:22102269   PMID:24326104   PMID:25741868   PMID:31064749   PMID:34355501  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018419 CLINVAR
  RCV000851585 CLINVAR
dbSNP (RS) rs121918552 CLINVAR
MedGen C0040034 CLINVAR
  C2677608 CLINVAR
NCBI Gene CYCS CLINVAR
OMIM 123970 CLINVAR
  612004 CLINVAR
OMIM Allele 123970.0001 CLINVAR