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Variant : CV74795 (GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1) Homo sapiens

Symbol: CV74795
Name: GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054074]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054074]|See cases [RCV000054074]
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: ELF2   LINC00498   LINC00499   MGARP   MGST2   NAA15   NDUFC1   NOCT   RAB33B   SETD7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_138370686)_(139672312_?)del
NC_000004.11:g.(?_139291840)_(140593466_?)del
NC_000004.10:g.(?_139511290)_(140812916_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh384138,370,686 - 139,672,312CLINVAR
GRCh374139,291,840 - 140,593,466CLINVAR
Build 364139,511,290 - 140,812,916CLINVAR
Cytogenetic Map44q28.3-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620987
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.