Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV71775 (GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1) Homo sapiens

Symbol: CV71775
Name: GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050831]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050831]|See cases [RCV000050831]
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   LINC00583   LINC01230   LINC01231   LINC01235   LINC02851   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.(?_204193)_(13974100_?)del
NC_000009.11:g.(?_204193)_(13974099_?)del
NC_000009.10:g.(?_194193)_(13964099_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389204,193 - 13,974,100CLINVAR
GRCh379204,193 - 13,974,099CLINVAR
Build 369194,193 - 13,964,099CLINVAR
Cytogenetic Map99p24.3-23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617903
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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