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Variant : CV73183 (GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2) Homo sapiens

Symbol: CV73183
Name: GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361]
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   ATXN3L   CLCN4   CLDN34   EGFL6   FAM9A   FAM9B   FAM9C   FRMPD4   GEMIN8   GPM6B   GPR143   HCCS   LINC01203   MID1   MIR548AX   MIR6086   MIR651   MSL3   OFD1   PRPS2   RAB9A   SHROOM2   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   VCX2   VCX3B   WWC3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_7992018)_(14435892_?)dup
NC_000023.10:g.(?_7960059)_(14454014_?)dup
NC_000023.9:g.(?_7920059)_(14363935_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X7,992,018 - 14,435,892CLINVAR
GRCh37X7,960,059 - 14,454,014CLINVAR
Build 36X7,920,059 - 14,363,935CLINVAR
Cytogenetic MapXXp22.31-22.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619351
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.