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Variant : CV72344 (GRCh38/hg38 14q11.2(chr14:21408814-21517190)x1) Homo sapiens

Symbol: CV72344
Name: GRCh38/hg38 14q11.2(chr14:21408814-21517190)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051489]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051489]|See cases [RCV000051489]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CHD8   METTL3   RAB2B   TOX4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_21408814)_(21517190_?)del
NC_000014.8:g.(?_21876973)_(21985341_?)del
NC_000014.7:g.(?_20946813)_(21055181_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381421,408,814 - 21,517,190CLINVAR
GRCh371421,876,973 - 21,985,341CLINVAR
Build 361420,946,813 - 21,055,181CLINVAR
Cytogenetic Map1414q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618504
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.