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Variant : CV72899 (GRCh38/hg38 14q11.2(chr14:20939377-21670911)x3) Homo sapiens

Symbol: CV72899
Name: GRCh38/hg38 14q11.2(chr14:20939377-21670911)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052056]|See cases [RCV000052056]
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: ARHGEF40   CHD8   HNRNPC   LINC00641   METTL17   METTL3   MIR6717   NDRG2   OR10G2   OR10G3   OR4E1   OR4E2   OR5AU1   RAB2B   RNASE13   RNASE2   RNASE7   RNASE8   RPGRIP1   SALL2   SLC39A2   SNORD8   SNORD9   SUPT16H   TMEM253   TOX4   TPPP2   TRA   TRAV1-1   TRAV1-2   ZNF219  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_20939377)_(21670911_?)dup
NC_000014.8:g.(?_21407536)_(22139126_?)dup
NC_000014.7:g.(?_20477376)_(21208966_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381420,939,377 - 21,670,911CLINVAR
GRCh371421,407,536 - 22,139,126CLINVAR
Build 361420,477,376 - 21,208,966CLINVAR
Cytogenetic Map1414q11.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619061
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.