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Variant : CV73616 (GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1) Homo sapiens

Symbol: CV73616
Name: GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|See cases [RCV000052815]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C12orf56   CAND1   CPM   DYRK2   GNS   GRIP1   HELB   HMGA2   IFNG   IFNG-AS1   IL22   IL26   IRAK3   LEMD3   LINC01479   LINC02384   LINC02389   LINC02408   LINC02420   LINC02421   LINC02425   LINC02442   LINC02454   LLPH   LLPH-DT   MDM1   MDM2   MIR548C   MIR548Z   MIR6074   MIR6502   MSRB3   NUP107   RAP1B   RASSF3   SLC35E3   SNORA70G   TBC1D30   TBK1   TMBIM4   WIF1   XPOT  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_64368308)_(69123358_?)del
NC_000012.11:g.(?_64762088)_(69517138_?)del
NC_000012.10:g.(?_63048355)_(67803405_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381264,368,308 - 69,123,358CLINVAR
GRCh371264,762,088 - 69,517,138CLINVAR
Build 361263,048,355 - 67,803,405CLINVAR
Cytogenetic Map1212q14.2-15CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619788
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.