Full data view for gene TYR

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

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i c.1037-7T>A r.(=) p.(=) Parent #1 - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 copied from the “Albanism Database” (University of Minnesota) PubMed: Gershoni-Baruch 1994 - - Germline - - - - - DNA SEQ - - OCA1B - PubMed: Gershoni-Baruch 1994 - - - - - - - - - 1 William (Bill) Oetting
+/. 2i c.1037-7T>A r.spl p.(=) Parent #1 - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 copied from the “Albanism Database” (University of Minnesota) PubMed: Hutton 2008a - - Germline - - - - - DNA SEQ - - OCA1B - PubMed: Hutton 2008a - - - - - - - - - 1 William (Bill) Oetting
+/. 2i c.1037-7T>A r.spl p.(=) Parent #1 - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 copied from the “Albanism Database” (University of Minnesota) PubMed: Hutton 2008b - - Germline - - - - - DNA SEQ - - OCA1B - PubMed: Hutton 2008b - - - - - - - - - 1 William (Bill) Oetting
+/. 2i c.1037-7T>A r.spl p.(=) Parent #1 - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 copied from the “Albanism Database” (University of Minnesota) PubMed: King 2003 - - Germline - - - - - DNA SEQ - - OCA1B - PubMed: King 2003 - - - - - - - - - 1 William (Bill) Oetting
+/. 2i c.1037-7T>A r.spl p.(=) Parent #1 - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 copied from the “Albanism Database” (University of Minnesota) PubMed: Spritz 1993 - - Germline - - - - - DNA SEQ - - OCA1B - PubMed: Spritz 1993 - - - - white - - - - 1 William (Bill) Oetting
+/. 2i c.1037-7T>A r.(=) p.(=) Parent #1 - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 copied from the “Albanism Database” (University of Minnesota) PubMed: Tanita 2002 - - Germline - - - - - DNA SEQ - - OCA1B - PubMed: Tanita 2002 - - - - - - - - - 1 William (Bill) Oetting
+/. 2i c.1037-7T>A r.spl p.(=) Maternal (confirmed) - pathogenic g.88960984T>A g.89227816T>A IVS2-7T>A - TYR_000025 - PubMed: Schnur 1996, PubMed: Hutton and Spritz 2008 - - Germline yes - DraI+ - - DNA PCR, SEQ, Southern - - OCA1B - PubMed: Schnur 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - 1 William (Bill) Oetting
+/. - c.1037-7T>A r.(=) p.(=) Unknown - pathogenic g.88960984T>A g.89227816T>A TYR(NM_000372.4):c.1037-7T>A, TYR(NM_000372.5):c.1037-7T>A - TYR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1037-7T>A r.(?) p.(?) Both (homozygous) ACMG pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 ACMG: PS3,PM2,PM3,PP3,PP5; Tanita et al. 2002. J Hum Genet 47: 1; Gargiulo et al. 2011. Investigative Ophthalmolgy and Visual Science 52: 1281; Goto et al. 2004. J Dermatol Sci 35: 215; Shahzad et al. 2017. Sci Rep 7: 44185 - - rs61754381 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1037-7T>A r.(=) p.(=) Parent #1 - likely pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61754381 Germline - 2/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.1037-7T>A r.(=) p.(=) Unknown - likely pathogenic g.88960984T>A - TYR(NM_000372.4):c.1037-7T>A, TYR(NM_000372.5):c.1037-7T>A - TYR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1037-7T>A r.(=) p.(=) Unknown ACMG VUS g.88960984T>A - - - TYR_000025 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA IR_GH_0019 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 2i c.1037-7T>A r.spl p.? Parent #1 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P35 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P63 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Maternal (inferred) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P73 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P81 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #1 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P87 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P88 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P94 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #1 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P114 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P139 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR/R402Q-P49 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1037-7T>A r.spl p.? Parent #1 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR/R402Q-P99 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #2 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P33 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P40 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #2 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P43 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P62 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #2 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P76 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P84 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #2 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P104 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #2 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P109 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P113 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P127 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.1037-7T>A r.spl p.? Parent #2 - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P142 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.1037-7T>A r.spl p.? Parent #2 ACMG likely pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 ACMG PS4, PM1, PP2, PP3 PubMed: Marinakis 2021 - rs61754381 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8026 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.1037-7T>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 ACMG PM1, PM2, PP2, PP4, PP5 PubMed: Marinakis 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8130 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.1037-7T>A r.spl p.? Unknown - pathogenic g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat84 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.1037-7T>A r.(=) p.(=) Unknown - pathogenic g.88960984T>A - TYR(NM_000372.4):c.1037-7T>A, TYR(NM_000372.5):c.1037-7T>A - TYR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.1037-7T>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.88960984T>A g.89227816T>A - - TYR_000025 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat6 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
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