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Variant : CV73662 (GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1) Homo sapiens

Symbol: CV73662
Name: GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|See cases [RCV000052863]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTSL1   AK3   BNC2   BNC2-AS1   C9orf92   CCDC171   CD274   CDC37L1   CDC37L1-DT   CER1   CNTLN   DMAC1   ERMP1   FREM1   GLDC   GLIS3   GLIS3-AS1   IL33   INSL4   INSL6   JAK2   KCNV2   KDM4C   KIAA2026   LINC00583   LINC01231   LINC01235   LINC02851   LURAP1L   LURAP1L-AS1   MIR101-2   MIR3152   MIR4665   MLANA   MPDZ   NFIB   PDCD1LG2   PLGRKT   PLPP6   PSIP1   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   SAXO1   SH3GL2   SLC1A1   SMARCA2   SNAPC3   SNORD137   SPATA6L   TPD52L3   TRH-GTG1-6   TTC39B   TYRP1   UHRF2   VLDLR   VLDLR-AS1   ZDHHC21  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_1242978)_(18957216_?)del
NC_000009.11:g.(?_1242978)_(18957214_?)del
NC_000009.10:g.(?_1232978)_(18947214_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3891,242,978 - 18,957,216CLINVAR
GRCh3791,242,978 - 18,957,214CLINVAR
Build 3691,232,978 - 18,947,214CLINVAR
Cytogenetic Map99p24.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619834
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.