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40 Possible Causes for 1 BP, 430G, INS,, NR0B1

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  • Dowling-Degos Disease

    Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyCAH 608089 CYP21A2 613815 10 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadismAHC 300200 NR0B1[medizinische-genetik.at] Only a novel 1-bp deletion (c.246 5delG) in POFUT1 was found.[ncbi.nlm.nih.gov] By exome sequencing, we identified nonsense mutation c.430G T (p.Glu144( )) in POFUT1, which encodes protein O-fucosyltransferase 1, in the family.[ncbi.nlm.nih.gov] We invoked NetGene2 [16] and MaxEntScan [17] splice site prediction softwares to investigate the effect of the 1-bp deletion on the splicing.[journals.plos.org]

  • Autosomal Recessive Dyskeratosis Congenita Type 5

    256300 ] NPHS2 Q9NP85 non-pleiotropic Nephrotic syndrome 2 (NPHS2) [MIM: 600995 ] NPR2 P20594 non-pleiotropic Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM: 602875 ] NR0B1[sbg.bio.ic.ac.uk] […] of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.[genome.jp] […] p.Gly135Glu GQ hepatopulmonary syndrome Gorgy et al, 2015 c.430G A p.Val144Met GQ idiopathic pulmonary fibrosis and pleuroparenchymal fibroelastosis Tsakiri et al, 2007 Newton[telomerase.asu.edu] Genes Dev. 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.[ghr.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism

    CONCLUSIONS: Two novel DAX1 (NR0B1) mutations were detected in two Chinese families.[ncbi.nlm.nih.gov] Center for Environment and Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany Thomas Meitinger RZPD Resource Center for Genome Research, 14059, Berlin, Germany Ines[dx.doi.org] The mRNA expression levels in carriers of mutant NR0B1 were significantly reduced (62% decrease) compared to those in individuals with wild-type NR0B1 (WT).[ncbi.nlm.nih.gov] LINE-1 ELEMENT A class of repetitive transposable element interspersed between and within genes throughout the genome.[dx.doi.org]

    Missing: 430G
  • Chondrodysplasia Punctata

    It contained the open reading frame, bps 1–1856, including 86 nucleotides of the 3′ untranslated region. wt ARSE diverges from the reference sequence (NM_000047.2) by having[nature.com] […] mutation (r.[430g a; 430_431ins430 1_430 21) adding seven amino acids between p.Ile143 and p.Gly144 (p.Ile143_Gly-144insSerMetTyrValPheLysSer).[ncbi.nlm.nih.gov] High concentrations of Ins-Gly in normal-appearing white matter have also been described.[ajnr.org] The main feature common to both spectra is the high Ins-Gly content. A, Gray matter. B, White matter.[ajnr.org]

    Missing: NR0B1
  • Trichorhinophalangeal Dysplasia Type 1

    CDKL5, CHD7, DHCR7, KRAS, MAP2K1, PLP1, PTPN11, RAI1, RUNX2, SOS1, SRY, MAP2K2, TSC2, SMC1A, NIPBL, NSD1, PTCH1, NF2, BMPR1A, SMAD4, BTK, PMP22, SCN1A, MAPT, AHI1, NF1, NR0B1[mendelian.co] , 77-82 , 2008 21 2008 A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia M Tariq, N Wasif, M Ayub, W Ahmad[scholar.google.com] N/A 22q11.21-q11.23 22q13.3 Deletion Syndrome 606232 SHANK3 22q13.33 Adenomatous Polyposis Of The Colon; Apc 175100 APC 5q22.2 Adrenal Hypoplasia, Congenital; Ahc 300200 NR0B1[laboratoriogenoma.it] SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS[mendelian.co]

    Missing: 430G
  • LIG4 Syndrome

    AIRE, AR, ARX, CFTR, CHD7, CREBBP, DHCR7, EIF2B1, LEP, LEPR, PCSK1, PTPN11, SOS1, SRY, FGFR2, CDKN1C, GPC3, HBA1, PROP1, PEX1, EIF2B5, FIG4, LMNA, EIF2B3, EIF2B2, EIF2B4, NR0B1[mendelian.co] […] of 1 bp; a frequency similar to, or even higher, than at Sμ–Sα junctions (68 vs. 58%; Table I ).[jem.rupress.org] Expected sizes of PCR products: 160 bp (coding joint), 1 kb (germline), and 304 bp (signal joint).[kundoc.com] F igure 1. —Structure of the Lig4 gene.[genetics.org]

    Missing: 430G
  • Atypical HSD10 Disease

    46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)- DHH 46XY sex reversal 1, 400044 (3)- SRY 46XY sex reversal 2, dosage-sensitive, 300018 (3)- NR0B1[rcpa.edu.au] Part A : (M), DNA molecular standards of which the sizes (bp) are indicated; (1), controls run without reverse transcriptase; (2), without RNA; (3), without primer; and (4[bmcbiochem.biomedcentral.com] Ins 22 Glossary Given these differences, Tejcsíra pikkelysömörrel has been proposed that this subfamily represents a new SDR class.[blizpensny.cba.pl] 201910 (3)- CYP21A2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)- HSD3B2 Adrenal hypoplasia, congenital, 300200 (3)- NR0B1[rcpa.edu.au]

    Missing: 430G
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Nephronophthisis-3 NPHP4 gene Form of Senior-Loken syndrome that maps to 1p36 Type 4 nephronophthisis NPHP6 gene Form of Senior-Loken syndrome that maps to 12q21-32 Joubert syndrome-5 NR0B1[julesberman.blogspot.com] * 3196 Steroid dehydrogenase deficiency-dental anomalies syndrome 1 Family 36426 Stevens-Johnson syndrome 0.36 I * 828 Stickler syndrome 12.2 BP 3199 Stimmler syndrome 2[azkurs.org] […] dystrophy (EBMD) Peters anomaly Pigmented paravenous chorioretinal atrophy (PPCA) Pituitary adenomas Choroideremia (CHM) Progressive external ophthalmoplegia (PEO) Pyridox(am)ine[csirnotes.com] Axenfeld-Rieger Syndrome (FOXC1, PITX2) 2 Azoospermia (AR, AURKC, AZF1, CAMK4, CFTR, DAZ2, DMRT1, DPP6, DPY19L2, E2F1, FKBP6, FKBPL,FSHB, H2BFWT, HORMAD1, HSF2, HSPA2, KLHL10, NANOS1, NR0B1[viafet.com]

    Missing: 430G
  • Werner Syndrome

    NR0B1- Related Adrenal Hypoplasia Congenita John C Achermann and Eric J Vilain. Initial Posting: November 20, 2001; Last Update: January 25, 2018.[ncbi.nlm.nih.gov] The patients, all compound heterozygotes, had a 1-bp deletion in the first third of the coding sequence in the other allele.[ncbi.nlm.nih.gov] More than 70 disease-causing mutations have been described, the majority being stop codon mutations, splice mutations, or small ins/del-producing truncations of the protein[thehealthscience.com] Table 1 ).[cancerres.aacrjournals.org]

    Missing: 430G
  • Wiedemann-Steiner Syndrome

    CDKL5, CHD7, DHCR7, KRAS, MAP2K1, PLP1, PTPN11, RAI1, RUNX2, SOS1, SRY, MAP2K2, TSC2, SMC1A, NIPBL, NSD1, PTCH1, NF2, BMPR1A, SMAD4, BTK, PMP22, SCN1A, MAPT, AHI1, NF1, NR0B1[mendelian.co] The expected product is 126 bp. BAT, brown adipose tissue; PIT, pituitary; PVN, paraventricular nucleus; WAT, white adipose tissue.[jmg.bmj.com] Pilz, Ines Martinez-Corral, Taija Makinen, Peter S. Mortimer, Steve Jeffery, Richard C.[kclpure.kcl.ac.uk] The pathogenic variants include missense (4), nonsense (4), small del/ins (5), splicing (1) and large deletion (1).[preventiongenetics.com]

    Missing: 430G