ClinVar

GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1

Genes:

• PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
• ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
• ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
• CNOT6:CCR4-NOT transcription complex subunit 6 [Gene - OMIM - HGNC]
• CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
• DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
• FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
• GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
• GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
• HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - OMIM - HGNC]
• KIAA1191:KIAA1191 [Gene - HGNC]
• MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
• MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
• N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
• NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
• NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
• PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
• PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
• PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
• RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
• RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
• RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
• SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
• TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
• ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
• ZFP62:ZFP62 zinc finger protein [Gene - OMIM - HGNC]
• MGAT1:alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
• MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
• B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
• BTNL3:butyrophilin like 3 [Gene - OMIM - HGNC]
• BTNL8:butyrophilin like 8 [Gene - OMIM - HGNC]
• BTNL9:butyrophilin like 9 [Gene - OMIM - HGNC]
• CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
• CANX:calnexin [Gene - OMIM - HGNC]
• CBY3:chibby family member 3 [Gene - HGNC]
• C5orf60:chromosome 5 open reading frame 60 [Gene - HGNC]
• CLTB:clathrin light chain B [Gene - OMIM - HGNC]
• F12:coagulation factor XII [Gene - OMIM - HGNC]
• COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
• DOK3:docking protein 3 [Gene - OMIM - HGNC]
• DBN1:drebrin 1 [Gene - OMIM - HGNC]
• EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
• FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
• FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
• FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
• FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
• GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
• GFPT2:glutamine-fructose-6-phosphate transaminase 2 [Gene - OMIM - HGNC]
• HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
• HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
• HK3:hexokinase 3 [Gene - OMIM - HGNC]
• LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
• LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
• MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
• MAPK9:mitogen-activated protein kinase 9 [Gene - OMIM - HGNC]
• NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
• OR2V1:olfactory receptor family 2 subfamily V member 1 [Gene - HGNC]
• OR2V2:olfactory receptor family 2 subfamily V member 2 [Gene - HGNC]
• OR2Y1:olfactory receptor family 2 subfamily Y member 1 [Gene - HGNC]
• PFN3:profilin 3 [Gene - OMIM - HGNC]
• PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
• RACK1:receptor for activated C kinase 1 [Gene - OMIM - HGNC]
• RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
• RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
• RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
• RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
• SCGB3A1:secretoglobin family 3A member 1 [Gene - OMIM - HGNC]
• SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
• SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
• SNCB:synuclein beta [Gene - OMIM - HGNC]
• TRK-CTT2-3:tRNA-Lys (anticodon CTT) 2-3 [Gene - OMIM - HGNC]
• TRP-TGG3-1:tRNA-Pro (anticodon TGG) 3-1 [Gene - OMIM - HGNC]
• TRT-TGT6-1:tRNA-Thr (anticodon TGT) 6-1 [Gene - OMIM - HGNC]
• TRV-AAC1-4:tRNA-Val (anticodon AAC) 1-4 [Gene - OMIM - HGNC]
• TRV-CAC1-2:tRNA-Val (anticodon CAC) 1-2 [Gene - OMIM - HGNC]
• TSPAN17:tetraspanin 17 [Gene - OMIM - HGNC]
• TMED9:transmembrane p24 trafficking protein 9 [Gene - OMIM - HGNC]
• TRIM41:tripartite motif containing 41 [Gene - OMIM - HGNC]
• TRIM52:tripartite motif containing 52 [Gene - OMIM - HGNC]
• TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
• UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
• UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
• ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
• ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
• ZNF354B:zinc finger protein 354B [Gene - HGNC]
• ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
• ZNF454:zinc finger protein 454 [Gene - HGNC]
• ZNF879:zinc finger protein 879 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

5q35.2-35.3

Genomic location:

Chr5: 175570677 - 180719789 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1

HGVS:

NC_000005.9:g.(?_175570677)_(180719789_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13639740; dbVar: nsv2776402

Observations:

1