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Variant : CV72570 (GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0) Homo sapiens

Symbol: CV72570
Name: GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051717]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051717]|See cases [RCV000051717]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BEX3   ESX1   FAM199X   H2BW1   H2BW2   LINC02589   MORF4L2   MORF4L2-AS1   PLP1   RAB40A   RAB9B   SLC25A53   TCEAL1   TCEAL3   TCEAL4   TCEAL9   TMEM31   TMSB15B   TMSB15B-AS1   ZCCHC18  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_103350604)_(104513304_?)del
NC_000023.10:g.(?_102605532)_(103757985_?)del
NC_000023.9:g.(?_102492188)_(103644641_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,350,604 - 104,513,304CLINVAR
GRCh37X102,605,532 - 103,757,985CLINVAR
Build 36X102,492,188 - 103,644,641CLINVAR
Cytogenetic MapXXq22.2-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618730
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.