RGD:40903189 Rat Genome Database

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Variant: RGD:40903189 -  Homo sapiens

RGD ID: 40903189
RS ID: rs1783401850
ClinVar ID: CV976756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYCS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 25,163,584
GRCh38 7 25,123,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.25123965G>A
LRG_876t1:c.155C>T
NP_061820.1:p.Ala52Val
NG_023438.1:g.6397C>T
More...
05/01/2020 missense variant likely pathogenic Thrombocytopenia
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: A to V (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDVEKGKKIFIMKCSQCHTVEKGGKHKTGPNLHGLFGRKTGQAPGYSYTAVNKNKGIIWGEDTLMEYLENPKKYIPGTK
MIFVGIKKKEERADLIAYLKKATNE*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001270600 CLINVAR
dbSNP (RS) rs1783401850 CLINVAR
MedGen C1458140 CLINVAR
NCBI Gene CYCS CLINVAR
OMIM 123970 CLINVAR