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Variant : CV74939 (GRCh38/hg38 8p23.3(chr8:241530-1532621)x1) Homo sapiens

Symbol: CV74939
Name: GRCh38/hg38 8p23.3(chr8:241530-1532621)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054222]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054222]|See cases [RCV000054222]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ERICH1   FAM87A   FBXO25   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241530)_(1532621_?)del
NC_000008.10:g.(?_191530)_(1480787_?)del
NC_000008.9:g.(?_181530)_(1468194_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 1,532,621CLINVAR
GRCh378191,530 - 1,480,787CLINVAR
Build 368181,530 - 1,468,194CLINVAR
Cytogenetic Map88p23.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621132
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.