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Variant : CV73236 (GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2) Homo sapiens

Symbol: CV73236
Name: GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052417]|See cases [RCV000052417]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB7   ARR3   AWAT1   AWAT2   CDX4   CHIC1   CITED1   CXCR3   CXorf49   CXorf49B   CXorf65   DGAT2L6   DLG3   DLG3-AS1   DMRTC1   DMRTC1B   EDA   EFNB1   ERCC6L   FAM155B   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FLJ44635   FOXO4   FTX   GCNA   GDPD2   GJB1   HDAC8   IGBP1   IL2RG   ITGB1BP2   JPX   KIF4A   LINC00269   LINC00891   MED12   MIR374A   MIR374B   MIR374C   MIR421   MIR545   MIR676   NAP1L2   NEXMIF   NHSL2   NLGN3   NONO   OGT   OPHN1   OTUD6A   P2RY4   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PDZD11   PHKA1   PHKA1-AS1   PIN4   PJA1   RAB41   RLIM   RPS4X   RTL5   SLC16A2   SLC7A3   SNORD3E   SNX12   STARD8   TAF1   TEX11   TSIX   UPRT   XIST   YIPF6   ZCCHC13   ZMYM3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_68382004)_(75243150_?)dup
NC_000023.10:g.(?_67601846)_(74462985_?)dup
NC_000023.9:g.(?_67518571)_(74379710_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X68,382,004 - 75,243,150CLINVAR
GRCh37X67,601,846 - 74,462,985CLINVAR
Build 36X67,518,571 - 74,379,710CLINVAR
Cytogenetic MapXXq12-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619404
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.