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Variant : CV568290 (NC_000009.11:g.(?_34458984)_(35809462_?)del) Homo sapiens

Symbol: CV568290
Name: NC_000009.11:g.(?_34458984)_(35809462_?)del
Condition: Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109]
Clinical Significance: pathogenic
Last Evaluated: 03/09/2018
Review Status: criteria provided, single submitter
Related Genes: ARHGEF39   ARID3C   C9orf131   CA9   CCDC107   CCL19   CCL21   CCL27   CD72   CNTFR   CREB3   DCTN3   DNAI1   DNAJB5   ENHO   FAM166B   FAM205A   FAM214B   FANCG   GALT   GBA2   IL11RA   MSMP   NPR2   PHF24   PIGO   RGP1   RMRP   RPP25L   RUSC2   SIGMAR1   SIT1   SPAG8   STOML2   TESK1   TLN1   TPM2   UNC13B   VCP  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_34458984)_(35809462_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh37934,458,984 - 35,809,462CLINVAR
Cytogenetic Map99p13.3CLINVAR
Trait Synonyms: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13819113
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-12-03
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.