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Variant : CV73334 (GRCh38/hg38 Xq28(chrX:153722500-154367160)x2) Homo sapiens

Symbol: CV73334
Name: GRCh38/hg38 Xq28(chrX:153722500-154367160)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524]
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   AVPR2   BCAP31   FLNA   HCFC1   HCFC1-AS1   IDH3G   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PDZD4   PLXNB3   RENBP   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153722500)_(154367160_?)dup
NW_003871103.3:g.(?_1156483)_(1502473_?)dup
NC_000023.9:g.(?_152641149)_(153248722_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,722,500 - 154,367,160CLINVAR
Build 36X152,641,149 - 153,248,722CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619502
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.