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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: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051443]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051443]|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: ACR   ADM2   ALG12   ARSA   BRD1   C22orf34   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   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
 
CRRD Object Information
CRRD ID: 8618459
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.