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Variant : CV821475 (NC_000023.10:g.(?_128674397)_(128975941_?)dup) Homo sapiens

Symbol: CV821475
Name: NC_000023.10:g.(?_128674397)_(128975941_?)dup
Condition: Mental retardation, X-linked, syndromic, Raymond type [RCV001031704]
Clinical Significance: uncertain significance
Last Evaluated: 08/30/2019
Review Status: criteria provided, single submitter
Related Genes: APLN   OCRL   SASH3   XPNPEP2   ZDHHC9  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_128674397)_(128975941_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh37X128,674,397 - 128,975,941CLINVAR
Cytogenetic MapXXq25-26.1CLINVAR
Trait Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE; ZDHHC9-Related X-linked Mental Retardation



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26898164
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-22
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.