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Variant : CV554237 (GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3) Homo sapiens

Symbol: CV554237
Name: GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3
Condition: not provided [RCV000682542]
Clinical Significance: pathogenic
Last Evaluated: 12/18/2017
Review Status: no assertion criteria provided
Related Genes: ADAMTS12   AGXT2   AMACR   ANXA2R   BRIX1   C1QTNF3   C5orf22   C5orf34   C5orf51   C6   C7   C9   CAPSL   CARD6   CCDC152   CCL28   CDH6   CPLANE1   DAB2   DNAJC21   DROSHA   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   FBXO4   FGF10   FYB1   GDNF   GDNF-AS1   GHR   GOLPH3   HCN1   HMGCS1   IL7R   LIFR   LMBRD2   MROH2B   MRPS30   MTMR12   NADK2   NIPBL   NNT   NPR3   NUP155   OSMR   OXCT1   PAIP1   PDZD2   PLCXD3   PRKAA1   PRLR   PTGER4   RAD1   RAI14   RANBP3L   RICTOR   RPL37   RXFP3   SELENOP   SKP2   SLC1A3   SLC45A2   SPEF2   SUB1   TARS1   TMEM267   TTC23L   TTC33   UGT3A1   UGT3A2   WDR70   ZFR   ZNF131  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37527,227,243 - 45,685,844CLINVAR
Cytogenetic Map55p14.1-12CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13795393
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-05-12
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.