torsin-1a-interacting protein 1 tor3a: encoding protein torsin family 3 member a tp53bp2 (1q41) tre-ctc1-5: transfer rna-glu (ctc) 1-5 uap1: udp-n-acetylhexosamine pyrophosphorylase ush2a: usher syndrome 2a (autosomal recessive, mild) usf1 (1q23) vangl2: encoding protein vangl planar cell polarity protein 2 vps45: vacuolar protein sorting-associated protein 45 vps72: vacuolar protein sorting-associated protein 72 yy1ap1: yy1-associated protein 1 zbed6: zinc finger, bed-type containing 6 zc3h11a: zinc finger ccch domain-containing protein 11a znf648 encoding protein zinc finger protein 648 znf669: zinc finger protein 669 znf687: zinc finger protein 687 znf692: zinc finger protein 692 znf695: zinc finger protein 695 diseases and disorders there are 890 known diseases related to this chromosome. some of these diseases are hearing loss, alzheimer's disease, glaucoma and breast cancer. rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth. complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. some partial deletions and partial duplications produce birth defects. the following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome): 1q21.1 deletion syndrome 1q21.1 duplication syndrome alzheimer's disease autosomal dominant charcot-marie-tooth disease type 2 with giant axons breast cancer brooke greenberg disease (syndrome x) carnitine palmitoyltransferase ii deficiency charcot–marie–tooth disease, types 1 and 2 collagenopathy, types ii and xi congenital hypothyroidism ehlers-danlos syndrome factor v leiden thrombophilia familial adenomatous polyposis galactosemia gaucher disease gaucher-like disease gelatinous drop-like corneal dystrophy glaucoma glut1 deficiency syndrome hearing loss, autosomal recessive deafness 36 hemochromatosis hepatoerythropoietic porphyria homocystinuria hutchinson gilford progeria syndrome 3-hydroxy-3-methylglutaryl-coa lyase deficiency hypertrophic cardiomyopathy, autosomal dominant mutations of tnnt2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death maple syrup urine disease medium-chain acyl-coenzyme a dehydrogenase deficiency microcephaly muckle–wells syndrome nonsyndromic deafness oligodendroglioma parkinson disease pheochromocytoma porphyria porphyria cutanea tarda popliteal pterygium syndrome prostate cancer stickler syndrome tar syndrome trimethylaminuria usher syndrome usher syndrome type ii van der woude syndrome variegate porphyria cytogenetic band g-banding ideograms of human chromosome 1g-banding ideogram of human chromosome 1 in resolution 850 bphs. band length in this diagram is proportional to base-pair length. this type of ideogram is generally used in genome browsers (e.g. ensembl, ucsc genome browser).g-banding patterns of human chromosome 1 in three different resolutions (400, 550 and 850). band length in this diagram is based on the ideograms from iscn (2013). this type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process. g-bands of human chromosome 1 in resolution 850 bphs chr. arm band iscnstart iscnstop basepairstart basepairstop stain density 1p 36.33 010012,300,000 gneg 1p 36.321002442,300,0015,300,000 gpos25 1p 36.31 2443445,300,0017,100,000 gneg 1p 36.23 3444597,100,0019,100,000 gpos25 1p 36.22 4596609,100,00112,500,000 gneg 1p 36.21 66086112,500,00115,900,000 gpos50 1p 36.13 861120615,900,00120,100,000 gneg 1p 36.12 1206132120,100,00123,600,000 gpos25 1p 36.11 1321152123,600,00127,600,000 gneg 1p 35.3 1521165127,600,00129,900,000 gpos25 1p 35.2 1651178029,900,00132,300,000 gneg 1p 35.1 1780189532,300,00134,300,000 gpos25 1p 34.3 1895221034,300,00139,600,000 gneg 1p 34.2 2210241139,600,00143,700,000 gpos25 1p 34.1 2411277043,700,00146,300,000 gneg 1p 33 2770298646,300,00150,200,000 gpos75 1p 32.3 2986327350,200,00155,600,000 gneg 1p 32.2 3273341655,600,00158,500,000 gpos50 1p 32.1 3416373258,500,00160,800,000 gneg 1p 31.3 3732397660,800,00168,500,000 gpos50 1p 31.2 3976420668,500,00169,300,000 gneg 1p 31.1 4206485269,300,00184,400,000 gpos100 1p 22.3 4852521084,400,00187,900,000 gneg 1p 22.2 5210544087,900,00191,500,000 gpos75 1p 22.1 5440574191,500,00194,300,000 gneg 1p 21.3 5741595794,300,00199,300,000 gpos75 1p 21.2 5957602999,300,001101,800,000 gneg 1p 21.1 60296244101,800,001106,700,000 gpos100 1p 13.3 62446459106,700,001111,200,000 gneg 1p 13.2 64596660111,200,001115,500,000 gpos50 1p 13.1 66606861115,500,001117,200,000 gneg 1p 12 68617048117,200,001120,400,000 gpos50 1p 11.2 70487119120,400,001121,700,000 gneg 1p 11.1 71197335121,700,001123,400,000 acen 1q 11 73357579123,400,001125,100,000 acen 1q 12 75798483125,100,001143,200,000 gvar 1q 21.1 84838756143,200,001147,500,000 gneg 1q 21.2 87568957147,500,001150,600,000 gpos50 1q 21.3 89579244150,600,001155,100,000 gneg 1q 22 92449459155,100,001156,600,000 gpos50 1q 23.1 94599832156,600,001159,100,000 gneg 1q 23.2 983210048159,100,001160,500,000 gpos50 1q 23.3 1004810349160,500,001165,500,000 gneg 1q 24.1 1034910507165,500,001167,200,000 gpos50 1q 24.2 1050710679167,200,001170,900,000 gneg 1q 24.3 1067910894170,900,001173,000,000 gpos75 1q 25.1 1089411009173,000,001176,100,000 gneg 1q 25.2 1100911196176,100,001180,300,000 gpos50 1q 25.3 1119611598180,300,001185,800,000 gneg 1q 31.1 1159811827185,800,001190,800,000 gpos100 1q 31.2 1182711942190,800,001193,800,000 gneg 1q 31.3 1194212172193,800,001198,700,000 gpos100 1q 32.1 1217212617198,700,001207,100,000 gneg 1q 32.2 1261712803207,100,001211,300,000 gpos25 1q 32.3 1280313033211,300,001214,400,000 gneg 1q 41 1303313320214,400,001223,900,000 gpos100 1q 42.11 1332013406223,900,001224,400,000 gneg 1q 42.12 1340613607224,400,001226,800,000 gpos25 1q 42.13 1360713966226,800,001230,500,000 gneg 1q 42.2 1396614153230,500,001234,600,000 gpos50 1q 42.3 1415314397234,600,001236,400,000 gneg 1q 43 1439714756236,400,001243,500,000 gpos75 1q 44 1475615100243,500,001248,956,422 gneg