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Variant : CV162475 (GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3) Homo sapiens

Symbol: CV162475
Name: GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3
Condition: See cases [RCV000141246]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS12   ADAMTS16   ADCY2   AGXT2   AMACR   ANKH   ANKRD33B   ATPSCKMT   BASP1   BASP1-AS1   BRIX1   C1QTNF3   C1QTNF3-AMACR   C5orf17   C5orf22   C5orf49   CAPSL   CCT5   CDH10   CDH12   CDH18   CDH18-AS1   CDH6   CDH9   CMBL   CTNND2   DAP   DNAH5   DNAJC21   DROSHA   FASTKD3   FBXL7   GOLPH3   H3Y1   H3Y2   ICE1   IL7R   LINC01018   LINC01020   LINC01194   LINC02061   LINC02064   LINC02102   LINC02103   LINC02109   LINC02111   LINC02112   LINC02120   LINC02121   LINC02123   LINC02142   LINC02145   LINC02146   LINC02149   LINC02150   LINC02160   LINC02199   LINC02211   LINC02212   LINC02213   LINC02217   LINC02218   LINC02220   LINC02221   LINC02223   LINC02226   LINC02228   LINC02236   LINC02239   LINC02241   LMBRD2   MARCHF11   MARCHF6   MED10   MIR10397   MIR10522   MIR4278   MIR4279   MIR4458   MIR4458HG   MIR4636   MIR4637   MIR579   MIR580   MIR6131   MIR887   MTMR12   MTRR   MYO10   NADK2   NPR3   NSUN2   OTULIN   OTULINL   PDZD2   PRDM9   PRLR   PURPL   RAD1   RAI14   RANBP3L   RETREG1   ROPN1L   ROPN1L-AS1   RXFP3   SEMA5A   SEMA5A-AS1   SKP2   SLC1A3   SLC45A2   SNHG18   SNORA105A   SNORD123   SNORD141B   SNORD170   SPEF2   SRD5A1   SUB1   TARS1   TAS2R1   TENT4A   TRIO   TTC23L   UBE2QL1   UGT3A1   UGT3A2   ZFR   ZNF622  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_4849498)_(36818719_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3854,849,498 - 36,818,719CLINVAR
GRCh3754,849,611 - 36,818,821CLINVAR
Build 3654,902,611 - 36,854,578CLINVAR
Cytogenetic Map55p15.32-13.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9488773
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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