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Variant : CV73366 (GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1) Homo sapiens

Symbol: CV73366
Name: GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052559]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052559]|See cases [RCV000052559]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKAR   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   ASDURF   ASNSD1   BOLL   C2orf66   C2orf88   CALCRL   CAVIN2   CAVIN2-AS1   CCDC141   CCDC150   CERKL   CHROMR   COL3A1   COL5A2   COQ10B   CWC22   DIRC1   DNAH7   DNAJC10   DUSP19   FAM171B   FKBP7   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   GLS   GTF3C3   GULP1   HECW2   HECW2-AS1   HIBCH   HSPD1   HSPE1   HSPE1-MOB4   INPP1   ITGA4   ITGAV   ITPRID2   LINC01090   LINC01473   LINC01790   LINC01821   LINC01827   LINC01923   LINC01934   MARS2   MFSD6   MIR1245A   MIR1245B   MIR1258   MIR3129   MIR3606   MIR4437   MIR548AE1   MIR561   MOB4   MSTN   MYO1B   NAB1   NABP1   NCKAP1   NEMP2   NEUROD1   NUP35   ORMDL1   OSBPL6   OSGEPL1   OSGEPL1-AS1   PCGEM1   PDE11A   PDE1A   PGAP1   PJVK   PLCL1   PLEKHA3   PMS1   PPP1R1C   PRKRA   RBM45   RFTN2   SCHLAP1   SESTD1   SF3B1   SLC39A10   SLC40A1   SNORA105B   STAT1   STAT4   STK17B   TFPI   TMEFF2   TTN   TTN-AS1   UBE2E3   WDR75   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_177874070)_(198525492_?)del
Human AssemblyChrPosition (strand)Source
GRCh382177,874,070 - 198,525,492CLINVAR
GRCh372178,738,797 - 199,390,216CLINVAR
Build 362178,447,043 - 199,098,461CLINVAR
Cytogenetic Map22q31.2-33.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619535
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.