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Variant : CV248044 (GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1) Homo sapiens

Symbol: CV248044
Name: GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1
Condition: See cases [RCV000240389]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADAMTS16   ADCY2   AHRR   ANKRD33B   ATPSCKMT   BRD9   C5orf38   C5orf49   CCDC127   CCT5   CEP72   CLPTM1L   CMBL   CTNND2   DAP   EXOC3   EXOC3-AS1   FASTKD3   ICE1   IRX1   IRX2   IRX4   LINC01194   LPCAT1   LRRC14B   MARCHF6   MED10   MRPL36   MTRR   NDUFS6   NKD2   NSUN2   PDCD6   PLEKHG4B   ROPN1L   SDHA   SEMA5A   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SRD5A1   TAS2R1   TENT4A   TERT   TPPP   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37522,149 - 13,362,684CLINVAR
Cytogenetic Map55p15.33-15.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541793
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-02-20
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.