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Variant : CV73745 (GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3) Homo sapiens

Symbol: CV73745
Name: GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052950]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052950]|See cases [RCV000052950]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACVR1   ACVR1C   BAZ2B   CCDC148   CCDC148-AS1   CD302   COBLL1   CSRNP3   CYTIP   DAPL1   DPP4   DPP4-DT   ERMN   FAP   FIGN   GALNT13   GALNT3   GALNT5   GCA   GCG   GPD2   GRB14   IFIH1   ITGB6   KCNH7   KCNH7-AS1   KCNJ3   LINC01806   LINC01876   LINC02478   LY75   LY75-CD302   MARCHF7   MIR4785   MIR6888   NR4A2   PKP4   PKP4-AS1   PLA2R1   PSMD14   RBMS1   SCN1A   SCN1A-AS1   SCN2A   SCN3A   SCN7A   SCN9A   SLC38A11   SLC4A10   SNORA70F   TANC1   TANK   TBR1   TRA-CGC3-1   TRG-GCC2-2   TTC21B   TTC21B-AS1   UPP2   WDSUB1   XIRP2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_154366788)_(167048902_?)dup
NC_000002.11:g.(?_155223300)_(167905412_?)dup
NC_000002.10:g.(?_154931546)_(167613658_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382154,366,788 - 167,048,902CLINVAR
GRCh372155,223,300 - 167,905,412CLINVAR
Build 362154,931,546 - 167,613,658CLINVAR
Cytogenetic Map22q24.1-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619919
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.