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Variant : CV554205 (GRCh37/hg19 5p15.33(chr5:113576-1816055)x1) Homo sapiens

Symbol: CV554205
Name: GRCh37/hg19 5p15.33(chr5:113576-1816055)x1
Condition: not provided [RCV000682510]
Clinical Significance: pathogenic
Last Evaluated: 12/28/2017
Review Status: no assertion criteria provided
Related Genes: AHRR   BRD9   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   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 - 1,816,055CLINVAR
Cytogenetic Map55p15.33CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795359
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.