ClinVar

GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1

Genes:

• BDH1:3-hydroxybutyrate dehydrogenase 1 [Gene - OMIM - HGNC]
• ATP13A3:ATPase 13A3 [Gene - OMIM - HGNC]
• ATP13A4:ATPase 13A4 [Gene - OMIM - HGNC]
• ATP13A5:ATPase 13A5 [Gene - OMIM - HGNC]
• ACAP2:ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Gene - OMIM - HGNC]
• FBXO45:F-box protein 45 [Gene - OMIM - HGNC]
• MB21D2:Mab-21 domain containing 2 [Gene - HGNC]
• OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
• SENP5:SUMO specific peptidase 5 [Gene - OMIM - HGNC]
• TNK2-AS1:TNK2 antisense RNA 1 [Gene - HGNC]
• UBXN7:UBX domain protein 7 [Gene - OMIM - HGNC]
• WDR53:WD repeat domain 53 [Gene - OMIM - HGNC]
• APOD:apolipoprotein D [Gene - OMIM - HGNC]
• CPN2:carboxypeptidase N subunit 2 [Gene - OMIM - HGNC]
• CEP19:centrosomal protein 19 [Gene - OMIM - HGNC]
• CLDN16:claudin 16 [Gene - OMIM - HGNC]
• CLDN1:claudin 1 [Gene - OMIM - HGNC]
• CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
• DLG1:discs large MAGUK scaffold protein 1 [Gene - OMIM - HGNC]
• DYNLT2B:dynein light chain Tctex-type 2B [Gene - OMIM - HGNC]
• FAM43A:family with sequence similarity 43 member A [Gene - HGNC]
• FGF12:fibroblast growth factor 12 [Gene - OMIM - HGNC]
• FYTTD1:forty-two-three domain containing 1 [Gene - OMIM - HGNC]
• GMNC:geminin coiled-coil domain containing [Gene - OMIM - HGNC]
• GP5:glycoprotein V platelet [Gene - OMIM - HGNC]
• HES1:hes family bHLH transcription factor 1 [Gene - OMIM - HGNC]
• IL1RAP:interleukin 1 receptor accessory protein [Gene - OMIM - HGNC]
• LSG1:large 60S subunit nuclear export GTPase 1 [Gene - OMIM - HGNC]
• LRRC15:leucine rich repeat containing 15 [Gene - OMIM - HGNC]
• LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
• MELTF:melanotransferrin [Gene - OMIM - HGNC]
• MIR570:microRNA 570 [Gene - OMIM - HGNC]
• MUC20:mucin 20, cell surface associated [Gene - OMIM - HGNC]
• MUC4:mucin 4, cell surface associated [Gene - OMIM - HGNC]
• NRROS:negative regulator of reactive oxygen species [Gene - OMIM - HGNC]
• NCBP2:nuclear cap binding protein subunit 2 [Gene - OMIM - HGNC]
• OSTN:osteocrin [Gene - OMIM - HGNC]
• PAK2:p21 (RAC1) activated kinase 2 [Gene - OMIM - HGNC]
• PCYT1A:phosphate cytidylyltransferase 1A, choline [Gene - OMIM - HGNC]
• PIGX:phosphatidylinositol glycan anchor biosynthesis class X [Gene - OMIM - HGNC]
• PIGZ:phosphatidylinositol glycan anchor biosynthesis class Z [Gene - OMIM - HGNC]
• PLAAT1:phospholipase A and acyltransferase 1 [Gene - OMIM - HGNC]
• P3H2:prolyl 3-hydroxylase 2 [Gene - OMIM - HGNC]
• PPP1R2:protein phosphatase 1 regulatory inhibitor subunit 2 [Gene - OMIM - HGNC]
• PYDC2:pyrin domain containing 2 [Gene - OMIM - HGNC]
• RNF168:ring finger protein 168 [Gene - OMIM - HGNC]
• RUBCN:rubicon autophagy regulator [Gene - OMIM - HGNC]
• SMCO1:single-pass membrane protein with coiled-coil domains 1 [Gene - HGNC]
• SLC51A:solute carrier family 51 subunit alpha [Gene - OMIM - HGNC]
• TFRC:transferrin receptor [Gene - OMIM - HGNC]
• TM4SF19:transmembrane 4 L six family member 19 [Gene - HGNC]
• TMEM207:transmembrane protein 207 [Gene - OMIM - HGNC]
• TMEM44:transmembrane protein 44 [Gene - HGNC]
• TP63:tumor protein p63 [Gene - OMIM - HGNC]
• TNK2:tyrosine kinase non receptor 2 [Gene - OMIM - HGNC]
• UTS2B:urotensin 2B [Gene - OMIM - HGNC]
• XXYLT1:xyloside xylosyltransferase 1 [Gene - OMIM - HGNC]
• ZDHHC19:zinc finger DHHC-type palmitoyltransferase 19 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

3q28-29

Genomic location:

Chr3: 189608636 - 197532175 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1

HGVS:

NC_000003.11:g.(?_189608636)_(197532175_?)del

This HGVS expression did not pass validation

Observations:

1