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Variant : CV384225 (GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1) Homo sapiens

Symbol: CV384225
Name: GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1
Condition: See cases [RCV000448521]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADAMTS16   ADCY2   AHRR   ANKH   ANKRD33B   ATPSCKMT   BASP1   BRD9   C5orf38   C5orf49   CCDC127   CCT5   CDH12   CDH18   CEP72   CLPTM1L   CMBL   CTNND2   DAP   DNAH5   EXOC3   EXOC3-AS1   FASTKD3   FBXL7   ICE1   IRX1   IRX2   IRX4   LINC01194   LPCAT1   LRRC14B   MARCHF11   MARCHF6   MED10   MRPL36   MTRR   MYO10   NDUFS6   NKD2   NSUN2   OTULIN   OTULINL   PDCD6   PLEKHG4B   RETREG1   ROPN1L   SDHA   SEMA5A   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SRD5A1   TAS2R1   TENT4A   TERT   TPPP   TRIO   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B   ZNF622  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh375113,576 - 21,786,246CLINVAR
Cytogenetic Map55p15.33-14.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853228
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.