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Variant : CV72598 (GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0) Homo sapiens

Symbol: CV72598
Name: GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0
Condition: Abnormal facial shape [RCV000051745]|See cases [RCV000051745]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CDR1   CXorf51A   CXorf51B   FMR1   FMR1-AS1   FMR1NB   LDOC1   LINC00632   MAGEC1   MAGEC2   MAGEC3   MIR320D2   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   SLITRK2   SLITRK4   SOX3   SPANXA1   SPANXA2   SPANXA2-OT1   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   UBE2NL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_140422829)_(148166315_?)del
NC_000023.10:g.(?_139504994)_(147005548_?)del
NC_000023.9:g.(?_139332660)_(147055527_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X140,422,829 - 148,166,315CLINVAR
GRCh37X139,504,994 - 147,005,548CLINVAR
Build 36X139,332,660 - 147,055,527CLINVAR
Cytogenetic MapXXq27.1-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618758
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.