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Variant : CV72686 (GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3) Homo sapiens

Symbol: CV72686
Name: GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS12   AGXT2   AMACR   ANXA2R   BRIX1   C1QTNF3   C1QTNF3-AMACR   C5orf22   C5orf34   C5orf51   C6   C7   C9   CAPSL   CARD6   CCDC152   CCL28   CDH6   CDH9   CPLANE1   DAB2   DNAJC21   DROSHA   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   FBXO4   FGF10   FGF10-AS1   FYB1   GDNF   GDNF-AS1   GHR   GOLPH3   HCN1   HMGCS1   IL7R   LIFR   LIFR-AS1   LINC00603   LINC01265   LINC02061   LINC02064   LINC02103   LINC02104   LINC02107   LINC02109   LINC02110   LINC02119   LINC02120   LINC02160   LINC02224   LMBRD2   LOC153684   MIR3650   MIR4279   MIR579   MIR580   MROH2B   MRPS30   MRPS30-DT   MTMR12   NADK2   NIM1K   NIPBL   NIPBL-DT   NNT   NNT-AS1   NPR3   NUP155   OSMR   OSMR-AS1   OXCT1   OXCT1-AS1   PAIP1   PDZD2   PLCXD3   PRKAA1   PRLR   PTGER4   PURPL   RAD1   RAI14   RANBP3L   RICTOR   RPL37   RXFP3   SELENOP   SKP2   SLC1A3   SLC45A2   SNORD72   SPEF2   SUB1   TARS1   TMEM267   TTC23L   TTC33   UGT3A1   UGT3A2   WDR70   ZFR   ZNF131  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_26593632)_(50288555_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38526,593,632 - 50,288,555CLINVAR
GRCh37526,593,741 - 49,584,389CLINVAR
Build 36526,629,498 - 49,620,146CLINVAR
Cytogenetic Map55p14.1-q11.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

RGD Object Information
RGD ID: 8618847
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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