ClinVar

GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1

Genes:

• PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
• ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
• CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
• DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
• N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
• NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
• PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
• PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
• RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
• ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
• B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
• COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
• DOK3:docking protein 3 [Gene - OMIM - HGNC]
• FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
• FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
• GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
• HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
• HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
• RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
• TMED9:transmembrane p24 trafficking protein 9 [Gene - 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:

5q35.3

Genomic location:

Chr5: 176918345 - 179061393 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1

HGVS:

NC_000005.9:g.(?_176918345)_(179061393_?)del

This HGVS expression did not pass validation