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Variant : CV919954 (NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro)) Homo sapiens

Symbol: CV919954
Name: NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro)
Condition: Chorea [RCV001195858]
Clinical Significance: uncertain significance
Last Evaluated: 12/24/2018
Review Status: criteria provided, single submitter
Related Genes: PDGFB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.39621738A>G
NM_002608.2:c.716T>C
NP_148937.1:p.Leu224Pro
NM_033016.3:c.671T>C
NP_002599.1:p.Leu239Pro
NM_002608.4:c.716T>C
NG_012111.1:g.24220T>C
NC_000022.11:g.39225733A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382239,225,733 - 39,225,733CLINVAR
GRCh372239,621,738 - 39,621,738CLINVAR
Cytogenetic Map2222q13.1CLINVAR
Trait Synonyms: Choreatic disease; Choreic movements; Choreiform movements; Generalized dystonia; Involuntary movements; Involuntary muscle contractions



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38459470
Created: 2020-08-11
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.