Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV74953 (GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1) Homo sapiens

Symbol: CV74953
Name: GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BIN3   BIN3-IT1   BMP1   C8orf58   CCAR2   DMTN   DOK2   EGR3   FAM160B2   FGF17   GFRA2   HR   LGI3   MIR320A   NPM2   NUDT18   PDLIM2   PEBP4   PHYHIP   PIWIL2   POLR3D   PPP3CC   REEP4   SFTPC   SLC39A14   SORBS3   XPO7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_21482945)_(22853239_?)del
NC_000008.10:g.(?_21340456)_(22710752_?)del
NC_000008.9:g.(?_21384736)_(22766697_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38821,482,945 - 22,853,239CLINVAR
GRCh37821,340,456 - 22,710,752CLINVAR
Build 36821,384,736 - 22,766,697CLINVAR
Cytogenetic Map88p21.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621146
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.