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Variant : CV73302 (GRCh38/hg38 Xq28(chrX:152932818-156022206)x3) Homo sapiens

Symbol: CV73302
Name: GRCh38/hg38 Xq28(chrX:152932818-156022206)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   ATP2B3   ATP6AP1   AVPR2   BCAP31   BGN   BRCC3   CCNQ   CLIC2   CMC4   CTAG1A   CTAG1B   CTAG2   DKC1   DNASE1L1   DUSP9   EMD   F8   F8A1   F8A2   F8A3   FAM223A   FAM223B   FAM3A   FAM50A   FLNA   FUNDC2   G6PD   GAB3   GDI1   H2AB1   H2AB2   H2AB3   HAUS7   HCFC1   HCFC1-AS1   IDH3G   IKBKG   IL9R   IRAK1   L1CAM   LAGE3   MAGEA1   MECP2   MIR1184-1   MIR1184-2   MIR1184-3   MIR3202-1   MIR3202-2   MIR664B   MIR6858   MIR718   MPP1   MTCP1   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PNMA6F   RAB39B   RENBP   RPL10   SLC10A3   SLC6A8   SMIM9   SNORA36A   SNORA56   SNORA70   SPRY3   SRPK3   SSR4   TAZ   TEX28   TKTL1   TMEM187   TMLHE   TMLHE-AS1   TREX2   UBL4A   VAMP7   VBP1   WASIR1   ZFP92   ZNF185   ZNF275  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_152932818)_(156022206_?)dup
NC_000023.10:g.(?_152173071)_(155251871_?)dup
NC_000023.9:g.(?_151852018)_(154905065_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X152,932,818 - 156,022,206CLINVAR
GRCh37X152,173,071 - 155,251,871CLINVAR
Build 36X151,852,018 - 154,905,065CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619470
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.