ClinVar

GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)

Genes:

• ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
• ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
• ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
• CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
• DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
• H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
• H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
• H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
• H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
• MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
• RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
• SPHAR:S-phase response (cyclin related) [Gene - HGNC]
• SDE2:SDE2 telomere maintenance homolog [Gene - HGNC]
• SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
• TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
• URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
• WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
• WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
• ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
• ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
• AGT:angiotensinogen [Gene - OMIM - HGNC]
• BTNL10:butyrophilin like 10 [Gene - HGNC]
• CAPN9:calpain 9 [Gene - OMIM - HGNC]
• CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
• C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
• C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
• C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
• COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
• COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
• EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
• EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
• FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
• GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
• GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
• GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
• ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
• IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
• JMJD4:jumonji domain containing 4 [Gene - HGNC]
• LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
• MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
• NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
• OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
• PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
• PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
• GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
• PSEN2:presenilin 2 [Gene - OMIM - HGNC]
• RHOU:ras homolog family member U [Gene - OMIM - HGNC]
• RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
• PRSS38:serine protease 38 [Gene - HGNC]
• STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
• SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
• TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
• TSNAX:translin associated factor X [Gene - OMIM - HGNC]
• TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
• TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
• TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
• ZNF678:zinc finger protein 678 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1q42.12-42.2

Genomic location:

Chr1: 226131690 - 231908227 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)

HGVS:

NC_000001.10:g.(?_226131690)_(231908227_?)del

This HGVS expression did not pass validation

Observations:

1