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Variant : CV73805 (GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1) Homo sapiens

Symbol: CV73805
Name: GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053026]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053026]|See cases [RCV000053026]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AMELX   ANOS1   ARHGAP6   ARSF   ATXN3L   CLCN4   CLDN34   EGFL6   FAM9A   FAM9B   FAM9C   FRMPD4   GPR143   HCCS   LINC01203   LINC01546   LINC02154   MID1   MIR4767   MIR4770   MIR548AX   MIR6086   MIR651   MSL3   MXRA5   NLGN4X   PNPLA4   PRKX   PRKX-AS1   PRPS2   PUDP   SHROOM2   SNORA48B   STS   TBL1X   TLR7   TLR8   TLR8-AS1   TMSB4X   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   WWC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_3057092)_(13615172_?)del
NC_000023.10:g.(?_2975133)_(13633291_?)del
NC_000023.9:g.(?_2985133)_(13543212_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X3,057,092 - 13,615,172CLINVAR
GRCh37X2,975,133 - 13,633,291CLINVAR
Build 36X2,985,133 - 13,543,212CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619980
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.