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Variant : CV74989 (GRCh38/hg38 Xq28(chrX:149570094-150326225)x2) Homo sapiens

Symbol: CV74989
Name: GRCh38/hg38 Xq28(chrX:149570094-150326225)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]|See cases [RCV000054285]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CXorf40B   HSFX1   HSFX2   HSFX4   LINC00850   LINC00894   MAGEA11   MAGEA8   MAGEA8-AS1   MAGEA9   MAGEA9B   MIR2114   TMEM185A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.9:g.(?_148459544)_(149245119_?)dup
NC_000023.11:g.(?_149570094)_(150326225_?)dup
NW_004070890.2:g.(?_5094492)_(5744560_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X149,570,094 - 150,326,225CLINVAR
Build 36X148,459,544 - 149,245,119CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621183
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.