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Variant : CV820428 (NC_000011.9:g.(?_117856768)_(118972385_?)del) Homo sapiens

Symbol: CV820428
Name: NC_000011.9:g.(?_117856768)_(118972385_?)del
Condition: Immunodeficiency 19 [RCV001031688]
Clinical Significance: pathogenic
Last Evaluated: 04/16/2019
Review Status: criteria provided, single submitter
Related Genes: ARCN1   ATP5MG   BCL9L   CD3D   CD3E   CD3G   CENATAC   CXCR5   DDX6   DPAGT1   FOXR1   H2AX   HMBS   HYOU1   IFT46   IL10RA   JAML   KMT2A   MPZL2   MPZL3   PHLDB1   RPS25   SCN2B   SCN4B   SLC37A4   TMEM25   TMPRSS4   TRAPPC4   TREH   TTC36   UBE4A   UPK2   VPS11  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_117856768)_(118972385_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3711117,856,768 - 118,972,385CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: CD3-DELTA DEFICIENCY; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26890488
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-09-08
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.