ClinVar

GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)

Genes:

• HPDL:4-hydroxyphenylpyruvate dioxygenase like [Gene - OMIM - HGNC]
• AGBL4:AGBL carboxypeptidase 4 [Gene - OMIM - HGNC]
• ATPAF1:ATP synthase mitochondrial F1 complex assembly factor 1 [Gene - OMIM - HGNC]
• BEND5:BEN domain containing 5 [Gene - HGNC]
• DMRTA2:DMRT like family A2 [Gene - OMIM - HGNC]
• EFCAB14:EF-hand calcium binding domain 14 [Gene - OMIM - HGNC]
• ELAVL4:ELAV like RNA binding protein 4 [Gene - OMIM - HGNC]
• FAF1:Fas associated factor 1 [Gene - OMIM - HGNC]
• GPBP1L1:GC-rich promoter binding protein 1 like 1 [Gene - HGNC]
• HECTD3:HECT domain E3 ubiquitin protein ligase 3 [Gene - OMIM - HGNC]
• MKNK1:MAPK interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]
• MOB3C:MOB kinase activator 3C [Gene - OMIM - HGNC]
• NSUN4:NOP2/Sun RNA methyltransferase 4 [Gene - OMIM - HGNC]
• PDZK1IP1:PDZK1 interacting protein 1 [Gene - OMIM - HGNC]
• RAD54L:RAD54 like [Gene - OMIM - HGNC]
• STIL:STIL centriolar assembly protein [Gene - OMIM - HGNC]
• TAL1:TAL bHLH transcription factor 1, erythroid differentiation factor [Gene - OMIM - HGNC]
• TRABD2B:TraB domain containing 2B [Gene - OMIM - HGNC]
• AKR1A1:aldo-keto reductase family 1 member A1 [Gene - OMIM - HGNC]
• C1orf185:chromosome 1 open reading frame 185 [Gene - HGNC]
• CCDC17:coiled-coil domain containing 17 [Gene - HGNC]
• CDKN2C:cyclin dependent kinase inhibitor 2C [Gene - OMIM - HGNC]
• CMPK1:cytidine/uridine monophosphate kinase 1 [Gene - OMIM - HGNC]
• CYP4A11:cytochrome P450 family 4 subfamily A member 11 [Gene - OMIM - HGNC]
• CYP4A22:cytochrome P450 family 4 subfamily A member 22 [Gene - OMIM - HGNC]
• CYP4B1:cytochrome P450 family 4 subfamily B member 1 [Gene - OMIM - HGNC]
• CYP4X1:cytochrome P450 family 4 subfamily X member 1 [Gene - OMIM - HGNC]
• CYP4Z1:cytochrome P450 family 4 subfamily Z member 1 [Gene - OMIM - HGNC]
• DMBX1:diencephalon/mesencephalon homeobox 1 [Gene - OMIM - HGNC]
• EPS15:epidermal growth factor receptor pathway substrate 15 [Gene - OMIM - HGNC]
• EIF2B3:eukaryotic translation initiation factor 2B subunit gamma [Gene - OMIM - HGNC]
• FAAH:fatty acid amide hydrolase [Gene - OMIM - HGNC]
• FOXD2:forkhead box D2 [Gene - OMIM - HGNC]
• FOXE3:forkhead box E3 [Gene - OMIM - HGNC]
• IPP:intracisternal A particle-promoted polypeptide [Gene - OMIM - HGNC]
• KNCN:kinocilin [Gene - OMIM - HGNC]
• LURAP1:leucine rich adaptor protein 1 [Gene - OMIM - HGNC]
• LRRC41:leucine rich repeat containing 41 [Gene - OMIM - HGNC]
• LINC00853:long intergenic non-protein coding RNA 853 [Gene - HGNC]
• MMACHC:metabolism of cobalamin associated C [Gene - OMIM - HGNC]
• MAST2:microtubule associated serine/threonine kinase 2 [Gene - OMIM - HGNC]
• MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
• NASP:nuclear autoantigenic sperm protein [Gene - OMIM - HGNC]
• OSBPL9:oxysterol binding protein like 9 [Gene - OMIM - HGNC]
• PTCH2:patched 2 [Gene - OMIM - HGNC]
• PRDX1:peroxiredoxin 1 [Gene - OMIM - HGNC]
• PIK3R3:phosphoinositide-3-kinase regulatory subunit 3 [Gene - OMIM - HGNC]
• POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
• RNF11:ring finger protein 11 [Gene - OMIM - HGNC]
• SLC5A9:solute carrier family 5 member 9 [Gene - OMIM - HGNC]
• SPATA6:spermatogenesis associated 6 [Gene - OMIM - HGNC]
• TOE1:target of EGR1, exonuclease [Gene - OMIM - HGNC]
• TESK2:testis associated actin remodelling kinase 2 [Gene - OMIM - HGNC]
• TEX38:testis expressed 38 [Gene - HGNC]
• TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]
• TTC39A:tetratricopeptide repeat domain 39A [Gene - OMIM - HGNC]
• TMEM69:transmembrane protein 69 [Gene - HGNC]
• UQCRH:ubiquinol-cytochrome c reductase hinge protein [Gene - OMIM - HGNC]
• UROD:uroporphyrinogen decarboxylase [Gene - OMIM - HGNC]
• ZSWIM5:zinc finger SWIM-type containing 5 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p34.1-32.3

Genomic location:

Chr1: 45303358 - 52157856 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)

HGVS:

NC_000001.10:g.(?_45303358)_(52157856_?)del

This HGVS expression did not pass validation

Observations:

1