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Variant : CV74431 (GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3) Homo sapiens

Symbol: CV74431
Name: GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3
Condition: Esophageal atresia [RCV000053704]|See cases [RCV000053704]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACER2   ADAMTSL1   AK3   BNC2   BNC2-AS1   C9orf92   CCDC171   CD274   CDC37L1   CDC37L1-DT   CDKN2A   CDKN2A-DT   CDKN2B   CDKN2B-AS1   CER1   CNTLN   DENND4C   DMAC1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   ERMP1   ERVFRD-3   FOCAD   FOCAD-AS1   FREM1   GLDC   GLIS3   GLIS3-AS1   HACD4   HAUS6   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNW1   IL33   INSL4   INSL6   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   KLHL9   LINC00583   LINC01230   LINC01231   LINC01235   LINC02851   LURAP1L   LURAP1L-AS1   MIR101-2   MIR31   MIR3152   MIR31HG   MIR4473   MIR4474   MIR4665   MIR491   MLANA   MLLT3   MPDZ   MTAP   NFIB   PDCD1LG2   PLGRKT   PLIN2   PLPP6   PSIP1   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   RPS6   RRAGA   SAXO1   SCARNA8   SH3GL2   SLC1A1   SLC24A2   SMARCA2   SNAPC3   SNORA30B   SNORD137   SPATA6L   TPD52L3   TRH-GTG1-6   TTC39B   TYRP1   UHRF2   VLDLR   VLDLR-AS1   ZDHHC21  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204193)_(22086858_?)dup
Human AssemblyChrPosition (strand)Source
GRCh389204,193 - 22,086,858CLINVAR
GRCh379204,193 - 22,086,857CLINVAR
Build 369194,193 - 22,076,857CLINVAR
Cytogenetic Map99p24.3-21.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620622
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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