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Variant : CV72230 (GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1) Homo sapiens

Symbol: CV72230
Name: GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: A4GALT   ACR   ADM2   ALG12   ARFGAP3   ARHGAP8   ARSA   ATP5MGL   ATXN10   BIK   BRD1   C22orf34   CDPF1   CELSR1   CERK   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   CYB5R3   CYP2D7   DENND6B   EFCAB6   EFCAB6-AS1   FAM118A   FBLN1   GRAMD4   GTSE1   GTSE1-DT   HDAC10   IL17REL   KIAA0930   KLHDC7B   LINC00207   LINC00229   LINC00898   LINC00899   LINC01310   LINC01315   LINC01589   LINC01639   LINC01644   LINC01656   LMF2   MAPK11   MAPK12   MAPK8IP2   MCAT   MIOX   MIR1249   MIR3201   MIR3619   MIR3667   MIR4535   MIR4762   MIR4763   MIR6821   MIRLET7A3   MIRLET7B   MIRLET7BHG   MLC1   MOV10L1   MPPED1   NCAPH2   NFAM1   NUP50   NUP50-DT   ODF3B   PACSIN2   PANX2   PARVB   PARVG   PHF21B   PIM3   PKDREJ   PLXNB2   PNPLA3   PNPLA5   POLDIP3   PPARA   PPP6R2   PRR34   PRR34-AS1   PRR5   PRR5-ARHGAP8   RIBC2   RNU12   RRP7A   RTL6   SAMM50   SBF1   SCO2   SCUBE1   SELENOO   SERHL   SERHL2   SHANK3   SHISAL1   SMC1B   SULT4A1   SYCE3   TAFA5   TBC1D22A   TBC1D22A-AS1   TCF20   TRABD   TRMU   TRU-TCA2-1   TSPO   TTC38   TTLL1   TTLL12   TTLL8   TUBGCP6   TYMP   UPK3A   WNT7B   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_42513525)_(51178264_?)del
NC_000022.9:g.(?_40843471)_(49525130_?)del
NC_000022.11:g.(?_42138114)_(50739836_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382242,138,114 - 50,739,836 (+)CLINVAR
GRCh372242,513,525 - 51,178,264CLINVAR
Build 362240,843,471 - 49,525,130CLINVAR
Cytogenetic Map2222q13.2-13.33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8618389
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.