Full data view for gene TYR

Information The variants shown are described using the NM_000372.4 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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./. - c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A T373K - TYR_000002 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A T373K - TYR_000002 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child9 F no United States - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A T373K - TYR_000002 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 father child10 F no United States - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic g.88961072C>A g.89227904C>A T373K - TYR_000002 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic g.88961072C>A g.89227904C>A T373K - TYR_000002 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Oetting 2009, Journal: Oetting 2009 trio mother, father, child - no United States - - - - - 3 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A T373K - TYR_000002 - PubMed: Oetting 2009, Journal: Oetting 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Oetting 2009, Journal: Oetting 2009 mother child3 M no United States - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 copied from the “Albanism Database” (University of Minnesota) PubMed: Gershoni-Baruch 1994 - rs61754388 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Gershoni-Baruch 1994 - - - - white - - - - 1 William (Bill) Oetting
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 copied from the “Albanism Database” (University of Minnesota) PubMed: Hutton 2008a - rs61754388 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Hutton 2008a - - - Germany German - - - - 1 William (Bill) Oetting
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 copied from the “Albanism Database” (University of Minnesota) PubMed: Hutton 2008b - rs61754388 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Hutton 2008b - - - Germany German - - - - 1 William (Bill) Oetting
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 copied from the “Albanism Database” (University of Minnesota) PubMed: King 2003 - rs61754388 Germline - - - - - DNA SEQ - - OCA1A - PubMed: King 2003 - - - - Libya;Jewish - - - - 1 William (Bill) Oetting
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 copied from the “Albanism Database” (University of Minnesota) PubMed: Opitz 2004 - rs61754388 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Opitz 2004 - - - - European - - - - 1 William (Bill) Oetting
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 copied from the “Albanism Database” (University of Minnesota) PubMed: Spritz 1990 - rs61754388 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Spritz 1990 - - - - - - - - - 1 William (Bill) Oetting
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown - pathogenic g.88961072C>A g.89227904C>A TYR(NM_000372.4):c.1118C>A (p.T373K), TYR(NM_000372.5):c.1118C>A (p.T373K) - TYR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown - pathogenic g.88961072C>A g.89227904C>A TYR(NM_000372.4):c.1118C>A (p.T373K), TYR(NM_000372.5):c.1118C>A (p.T373K) - TYR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown - pathogenic g.88961072C>A - TYR(NM_000372.4):c.1118C>A (p.T373K), TYR(NM_000372.5):c.1118C>A (p.T373K) - TYR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - likely pathogenic g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown ACMG pathogenic g.88961072C>A g.89227904C>A TYR c.1118C>A p.(Thr373Lys) het TYR c.1205G>A p.(Arg402Gln) het TYR c.575C>A p.(Ser192Tyr) hom - TYR_000002 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 40 genes panel tested retinal disease 16017162 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown ACMG pathogenic g.88961072C>A g.89227904C>A TYR c.1118C>A p.(Thr373Lys) het TYR c.575C>A p.(Ser192Tyr) hom TYR c.1205G>A p.(Arg402Gln) het - TYR_000002 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16026544 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown ACMG pathogenic g.88961072C>A g.89227904C>A TYR c.1118C>A p.(Thr373Lys) het TYR c.1217C>T p.(Pro406Leu) het - TYR_000002 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17001518 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1118C>A r.(?) p.(Thr373Lys) Unknown ACMG pathogenic g.88961072C>A g.89227904C>A TYR c.1099C>T p.(His367Tyr) het TYR c.1118C>A p.(Thr373Lys) het - TYR_000002 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16010606 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 3 c.1118C>A r.(?) p.(Thr373Lys) Unknown - likely pathogenic g.88961072C>A - c.1118C>A - TYR_000002 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Both (homozygous) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P24 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P34 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Both (homozygous) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P47 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P52 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P70 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P89 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Both (homozygous) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P117 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Both (homozygous) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P138 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P11 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P15 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P19 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P24 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P27 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P34 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P46 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P50 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P52 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P61 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P64 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P68 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P72 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P73 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P88 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P90 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P92 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (inferred) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P97 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P103 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P107 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (inferred) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P110 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P121 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P124 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P132 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P139 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P22 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P29 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P36 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (inferred) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P78 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P88 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P94 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P102 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P114 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P118 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P126 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P128 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P139 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Paternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P140 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (inferred) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P143 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P148 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Maternal (confirmed) - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P159 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P160 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.1118C>A r.(?) p.(Thr373Lys) Parent #1 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25451 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam22206 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam22894 PubMed: Jackson 2020 - - - Ireland white - - - - 1 Johan den Dunnen
+/. - c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam23561 PubMed: Jackson 2020 - - - Ireland white - - - - 1 Johan den Dunnen
+/. - c.1118C>A r.(?) p.(Thr373Lys) Parent #2 - pathogenic (recessive) g.88961072C>A g.89227904C>A - - TYR_000002 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25444 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
Legend   How to query  

This database is one of the ”Eye disease” gene variant databases


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Use our APIs to retrieve data.