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Variant : CV75012 (GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1) Homo sapiens

Symbol: CV75012
Name: GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AK3   CD274   CDC37L1   CDC37L1-DT   DMAC1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   ERMP1   GLDC   GLIS3   GLIS3-AS1   IL33   INSL4   INSL6   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   LINC01230   LINC01231   LINC01235   LURAP1L   LURAP1L-AS1   MIR101-2   MIR4665   MLANA   MPDZ   PDCD1LG2   PLGRKT   PLPP6   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   SLC1A1   SMARCA2   SNORD137   SPATA6L   TPD52L3   TYRP1   UHRF2   VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_203993)_(13753101_?)del
NC_000009.11:g.(?_203993)_(13753100_?)del
NC_000009.10:g.(?_193993)_(13743100_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389203,993 - 13,753,101CLINVAR
GRCh379203,993 - 13,753,100CLINVAR
Build 369193,993 - 13,743,100CLINVAR
Cytogenetic Map99p24.3-23CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621206
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.