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Variant : CV74940 (GRCh38/hg38 8p23.3-23.2(chr8:241530-4388060)x1) Homo sapiens

Symbol: CV74940
Name: GRCh38/hg38 8p23.3-23.2(chr8:241530-4388060)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054223]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054223]|See cases [RCV000054223]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGEF10   CLN8   CSMD1   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   MIR3674   MIR596   MIR7160   MYOM2   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_241530)_(4388060_?)del
NC_000008.10:g.(?_191530)_(4245582_?)del
NC_000008.9:g.(?_181530)_(4232990_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388241,530 - 4,388,060CLINVAR
GRCh378191,530 - 4,245,582CLINVAR
Build 368181,530 - 4,232,990CLINVAR
Cytogenetic Map88p23.3-23.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621133
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.