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Variant : CV71665 (GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3) Homo sapiens

Symbol: CV71665
Name: GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050673]|Global developmental delay [RCV000050674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050673]|See cases [RCV000050673]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ACOXL   ANAPC1   BCL2L11   FBLN7   MERTK   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110684553)_(112308202_?)dup
NC_000002.11:g.(?_111442130)_(113065779_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,684,553 - 112,308,202CLINVAR
GRCh372111,442,130 - 113,065,779CLINVAR
Cytogenetic Map22q13-14.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.




Additional Information

 
CRRD Object Information
CRRD ID: 8617770
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.