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Variant : CV381262 (GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1) Homo sapiens

Symbol: CV381262
Name: GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1
Condition: See cases [RCV000448019]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADAMTS12   ADAMTS16   ADCY2   AHRR   AMACR   ANKH   ANKRD33B   ATPSCKMT   BASP1   BRD9   C1QTNF3   C5orf17   C5orf22   C5orf38   C5orf49   CCDC127   CCT5   CDH10   CDH12   CDH18   CDH6   CDH9   CEP72   CLPTM1L   CMBL   CTNND2   DAP   DNAH5   DROSHA   EXOC3   EXOC3-AS1   FASTKD3   FBXL7   GOLPH3   ICE1   IRX1   IRX2   IRX4   LINC01194   LPCAT1   LRRC14B   MARCHF11   MARCHF6   MED10   MRPL36   MTMR12   MTRR   MYO10   NDUFS6   NKD2   NPR3   NSUN2   OTULIN   OTULINL   PDCD6   PDZD2   PLEKHG4B   PRDM9   RETREG1   ROPN1L   RXFP3   SDHA   SEMA5A   SLC12A7   SLC45A2   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SRD5A1   SUB1   TARS1   TAS2R1   TENT4A   TERT   TPPP   TRIO   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B   ZFR   ZNF622  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37522,149 - 34,041,196CLINVAR
Cytogenetic Map55p15.33-13.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12852730
Created: 2017-04-11
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.