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Variant : CV563247 (NC_000009.11:g.(?_34645556)_(36277059_?)dup) Homo sapiens

Symbol: CV563247
Name: NC_000009.11:g.(?_34645556)_(36277059_?)dup
Condition: Anauxetic dysplasia [RCV000708053]
Clinical Significance: uncertain significance
Last Evaluated: 04/23/2018
Review Status: criteria provided, single submitter
Related Genes: AL162231.1   ARHGEF39   C9orf131   CA9   CCDC107   CCIN   CCL19   CCL21   CCL27   CD72   CLTA   CREB3   DNAJB5   DNAJB5-DT   FAM166B   FAM205A   FAM205C   FAM214B   FAM221B   FANCG   GALT   GBA2   GLIPR2   GNE   HINT2   HRCT1   IL11RA   LOC101926948   LOC111365206   LOC111721710   LOC113839547   LOC113839549   MIR4667   MIR6852   MIR6853   MSMP   NPR2   OR13J1   OR2S2   PHF24   PIGO   RECK   RGP1   RMRP   RUSC2   SIT1   SPAAR   SPAG8   STOML2   TESK1   TLN1   TMEM8B   TPM2   UNC13B   VCP  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_34645556)_(36277059_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38934,645,559 - 36,277,062CLINVAR
GRCh37934,645,556 - 36,277,059CLINVAR
Cytogenetic Map99p13.3CLINVAR
Trait Synonyms: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13819023
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-11-17
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.