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Variant : CV652016 (NC_000009.11:g.(?_134379574)_(138678377_?)dup) Homo sapiens

Symbol: CV652016
Name: NC_000009.11:g.(?_134379574)_(138678377_?)dup
Condition: Ehlers-Danlos syndrome, classic type [RCV000807925]
Clinical Significance: uncertain significance
Last Evaluated: 10/17/2018
Review Status: criteria provided, single submitter
Related Genes: ABO   ADAMTS13   ADAMTSL2   AK8   BARHL1   BRD3   C9orf116   C9orf62   CACFD1   CEL   CFAP77   COL5A1   DBH   DDX31   FAM163B   FCN1   FCN2   GBGT1   GFI1B   GLT6D1   GTF3C4   GTF3C5   KCNT1   LCN1   LCN9   MED22   MED27   MRPS2   MYMK   NTNG2   OBP2A   OBP2B   OLFM1   PAEP   POMT1   PPP1R26   RALGDS   RAPGEF1   REXO4   RNU6ATAC   RPL7A   RXRA   SARDH   SETX   SLC2A6   SOHLH1   SPACA9   STKLD1   SURF1   SURF2   SURF4   SURF6   TSC1   TTF1   UCK1   VAV2   WDR5  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_134379574)_(138678377_?)dup
Human AssemblyChrPosition (strand)Source
GRCh379134,379,574 - 138,678,377CLINVAR
Cytogenetic Map99q34.13-34.3CLINVAR
Trait Synonyms: Ehlers-Danlos syndrome type 1 (formerly); Ehlers-Danlos syndrome type 2 (formerly); EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; Ehlers-Danlos syndrome, type 2

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14707768
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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