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Variant : CV199845 (KCNH1, GLY348ARG) Homo sapiens

Symbol: CV199845
Name: KCNH1, GLY348ARG
Condition: Laband syndrome [RCV000185593]|Zimmermann-Laband syndrome 1 [RCV000185593]
Clinical Significance: pathogenic
Last Evaluated: 07/08/2015
Review Status: no assertion criteria provided
Related Genes: KCNH1  
Variant Type: variation (SO:0001059)
Source: CLINVAR
Evidence: literature only
Position No map positions available.
Trait Synonyms: FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY; Laband syndrome
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000




Additional Information

 
RGD Object Information
RGD ID: 10054525
Created: 2015-08-11
Species: Homo sapiens
Last Modified: 2016-05-31
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.