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Variant : CV71604 (GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1) Homo sapiens

Symbol: CV71604
Name: GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1
Condition: See cases [RCV000050580]
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   AL513422.1   BNC2   BNC2-AS1   C9orf92   CCDC171   CER1   CNTLN   FREM1   LINC00583   LINC01235   LURAP1L   LURAP1L-AS1   MPDZ   NFIB   PSIP1   PTPRD   PTPRD-AS2   SH3GL2   SNAPC3   SNORD137   TRH-GTG1-6   TTC39B   TYRP1   ZDHHC21  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_9661633)_(18034356_?)del
NC_000009.11:g.(?_9661633)_(18034354_?)del
NC_000009.10:g.(?_9651633)_(18024354_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3899,661,633 - 18,034,356CLINVAR
GRCh3799,661,633 - 18,034,354CLINVAR
Build 3699,651,633 - 18,024,354CLINVAR
Cytogenetic Map99p23-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617696
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
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.