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Variant : CV24902 (SYP, 1-BP INS, 274A) Homo sapiens

Symbol: CV24902
Name: SYP, 1-BP INS, 274A
Condition: Mental retardation, X-linked 96 [RCV000010538]
Clinical Significance: pathogenic
Last Evaluated: 02/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SYP  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: 1-bp ins, 274a
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXp11.23-p11.22CLINVAR
Age Of Onset: childhood



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8561213
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.