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Variant : CV554207 (GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1) Homo sapiens

Symbol: CV554207
Name: GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1
Condition: not provided [RCV000682512]
Clinical Significance: pathogenic
Last Evaluated: 08/28/2017
Review Status: no assertion criteria provided
Related Genes: ADAMTS16   AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   ICE1   IRX1   IRX2   IRX4   LPCAT1   LRRC14B   MRPL36   NDUFS6   NKD2   PDCD6   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh375113,576 - 6,125,331CLINVAR
Cytogenetic Map55p15.33-15.32CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795361
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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