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Variant : CV72600 (GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1) Homo sapiens

Symbol: CV72600
Name: GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747]
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   AFF2   ARHGAP4   ATP2B3   ATP6AP1   AVPR2   BCAP31   BGN   BRCC3   CCNQ   CD99L2   CETN2   CLIC2   CMC4   CNGA2   CSAG1   CSAG2   CSAG3   CTAG1A   CTAG1B   CTAG2   CXorf40A   CXorf40B   CXorf51A   CXorf51B   DKC1   DNASE1L1   DUSP9   EMD   F8   F8A1   F8A2   F8A3   FAM223A   FAM223B   FAM3A   FAM50A   FATE1   FLNA   FMR1   FMR1-AS1   FMR1NB   FUNDC2   G6PD   GAB3   GABRA3   GABRE   GABRQ   GDI1   GPR50   GPR50-AS1   H2AB1   H2AB2   H2AB3   HAUS7   HCFC1   HCFC1-AS1   HMGB3   HSFX1   HSFX2   HSFX3   HSFX4   IDH3G   IDS   IKBKG   IL9R   IRAK1   L1CAM   LAGE3   LINC00850   LINC00893   LINC00894   MAGEA1   MAGEA10   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA5   MAGEA6   MAGEA8   MAGEA8-AS1   MAGEA9   MAGEA9B   MAMLD1   MECP2   MIR105-1   MIR105-2   MIR1184-1   MIR1184-2   MIR1184-3   MIR2114   MIR224   MIR3202-1   MIR3202-2   MIR4330   MIR452   MIR506   MIR507   MIR508   MIR509-1   MIR509-2   MIR509-3   MIR510   MIR513A1   MIR513A2   MIR513B   MIR513C   MIR514A1   MIR514A2   MIR514A3   MIR514B   MIR664B   MIR6858   MIR718   MIR767   MIR888   MIR890   MIR891A   MIR891B   MIR892A   MIR892B   MIR892C   MPP1   MTCP1   MTM1   MTMR1   NAA10   NSDHL   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PASD1   PDZD4   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PNMA6F   PRRG3   RAB39B   RENBP   RPL10   SLC10A3   SLC6A8   SMIM9   SNORA36A   SNORA56   SNORA70   SPRY3   SRPK3   SSR4   TAZ   TEX28   TKTL1   TMEM185A   TMEM187   TMLHE   TMLHE-AS1   TREX2   UBL4A   VAMP7   VBP1   VMA21   WASIR1   ZFP92   ZNF185   ZNF275  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_145879711)_(156022206_?)del
NC_000023.10:g.(?_146715565)_(155251871_?)del
NC_000023.9:g.(?_144768921)_(154905065_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X145,879,711 - 156,022,206CLINVAR
GRCh37X146,715,565 - 155,251,871 (+)CLINVAR
Build 36X144,768,921 - 154,905,065CLINVAR
Cytogenetic MapXXq27.3-28CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618760
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.