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Variant : CV248045 (GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3) Homo sapiens

Symbol: CV248045
Name: GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3
Condition: See cases [RCV000239779]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADAMTS12   AGXT2   AMACR   ANKH   ANXA2R   BASP1   BRIX1   C1QTNF3   C5orf17   C5orf22   C5orf34   C5orf51   C6   C7   C9   CAPSL   CARD6   CCDC152   CCL28   CDH10   CDH12   CDH18   CDH6   CDH9   CPLANE1   DAB2   DNAH5   DNAJC21   DROSHA   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   FBXL7   FBXO4   FGF10   FYB1   GDNF   GDNF-AS1   GHR   GOLPH3   HCN1   HMGCS1   IL7R   LIFR   LMBRD2   MARCHF11   MROH2B   MRPS30   MTMR12   MYO10   NADK2   NIPBL   NNT   NPR3   NUP155   OSMR   OTULIN   OTULINL   OXCT1   PAIP1   PDZD2   PLCXD3   PRDM9   PRKAA1   PRLR   PTGER4   RAD1   RAI14   RANBP3L   RETREG1   RICTOR   RPL37   RXFP3   SELENOP   SKP2   SLC1A3   SLC45A2   SPEF2   SUB1   TARS1   TMEM267   TRIO   TTC23L   TTC33   UGT3A1   UGT3A2   WDR70   ZFR   ZNF131   ZNF622  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37513,461,664 - 46,098,927CLINVAR
Cytogenetic Map55p15.2-12CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541306
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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