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Variant : CV436217 (GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3) Homo sapiens

Symbol: CV436217
Name: GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3
Condition: See cases [RCV000510447]
Clinical Significance: likely pathogenic
Last Evaluated: 09/09/2015
Review Status: no assertion criteria provided
Related Genes: AC124242.1   ASAH1   C8orf48   CNOT7   DEFB130A   DLC1   FAM86B1   FAM86B2   FGF20   FGL1   LONRF1   MICU3   MSR1   MTMR7   MTUS1   NAT1   NAT2   PCM1   PDGFRL   PSD3   SGCZ   SLC7A2   TRMT9B   TUSC3   USP17L2   USP17L7   VPS37A   ZDHHC2   ZNF705D  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37811,935,023 - 18,814,062CLINVAR
Cytogenetic Map88p23.1-22CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13443426
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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