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Variant : CV72299 (GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1) Homo sapiens

Symbol: CV72299
Name: GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1
Condition: See cases [RCV000051443]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC000036.1   ACR   ADM2   ALG12   ARSA   BRD1   C22orf34   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   KLHDC7B-DT   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MIR3667   MIR6821   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_49395349)_(50738932_?)del
NC_000022.10:g.(?_49788999)_(51177360_?)del
NC_000022.9:g.(?_48175003)_(49524226_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382249,395,349 - 50,738,932CLINVAR
GRCh372249,788,999 - 51,177,360CLINVAR
Build 362248,175,003 - 49,524,226CLINVAR
Cytogenetic Map2222q13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618459
Created: 2014-05-13
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.