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Variant : CV73738 (GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3) Homo sapiens

Symbol: CV73738
Name: GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052943]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052943]|See cases [RCV000052943]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG5   ABCG8   ACYP2   ASB3   ATP6V1E2   BCYRN1   C1GALT1C1L   C2orf73   C2orf91   CALM2   CAMKMT   CCDC85A   CCDC88A   CFAP36   CHAC2   CLHC1   COX7A2L   CRIPT   DYNC2LI1   EFEMP1   EML4   EML4-AS1   EML6   EML6-AS1   EPAS1   EPCAM   EPCAM-DT   ERLEC1   FBXO11   FOXN2   FSHR   GPR75   GPR75-ASB3   GTF2A1L   HAAO   KCNG3   KCNK12   LHCGR   LINC01118   LINC01119   LINC01121   LINC01126   LINC01794   LINC01813   LINC01819   LINC01820   LINC01833   LINC01867   LINC01913   LINC01914   LINC02580   LINC02583   LRPPRC   MCFD2   MIR216A   MIR216B   MIR217   MIR217HG   MIR3682   MIR4431   MIR548BA   MIR559   MIR8485   MSH2   MSH2-OT1   MSH6   MTA3   MTIF2   NRXN1   OXER1   PIGF   PKDCC   PLEKHH2   PNPT1   PPM1B   PPP1R21   PPP4R3B   PREPL   PRKCE   PRKCE-AS1   PSME4   RHOQ   RPS27A   RTN4   SIX2   SIX3   SIX3-AS1   SLC3A1   SOCS5   SPTBN1   SRBD1   STON1   STON1-GTF2A1L   STPG4   THADA   TMEM247   TRI-TAT2-1   TSPYL6   TTC7A   ZFP36L2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_40738282)_(57863821_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38240,738,282 - 57,863,821CLINVAR
GRCh37240,965,422 - 58,090,956CLINVAR
Build 36240,818,926 - 57,944,460CLINVAR
Cytogenetic Map22p22.1-16.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619912
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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