Full data view for gene TYR

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

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chaki 2011, Journal: Chanki 2001 - - Germline - - - - - DNA SEQ - - OCA1 - PubMed: Chaki 2011, Journal: Chanki 2001 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Chaki 2005a - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Chaki 2005a - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Gershoni-Baruch 1994 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Gershoni-Baruch 1994 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Goto 2004 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Goto 2004 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: King 2003 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: King 2003 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Matsunaga 1998 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Matsunaga 1998 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Spritz 1993 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Spritz 1993 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Sundaresan 2004 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Sundaresan 2004 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Tanita 2002 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Tanita 2002 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Tripathi 1993 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Tripathi 1993 - - - - Indo-Pakistani - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Wang 2009 - rs62645904 Germline - - - - - DNA SEQ - - OCA1A - PubMed: Wang 2009 - - - - - - - - - 1 William (Bill) Oetting
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 - pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 copied from the “Albanism Database” (University of Minnesota) PubMed: Chaki 2006 - - Germline yes - - - - DNA SEQ - - OCA1A - PubMed: Chaki 2006 family - - India Indian, Tambuli - - - - 1 William (Bill) Oetting
+/. - c.832C>T r.(?) p.(Arg278Ter) Unknown - pathogenic g.88924382C>T g.89191214C>T TYR(NM_000372.5):c.832C>T (p.R278*) - TYR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS OCA 28771251-Pat70 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.832C>T r.(?) p.(Arg278Ter) Unknown - pathogenic g.88924382C>T g.89191214C>T TYR(NM_000372.5):c.832C>T (p.R278*) - TYR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.832C>T r.(?) p.(Arg278*) Paternal (confirmed) ACMG pathogenic (recessive) g.88924382C>T - - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK14 PubMed: Ganguly 2020 - - - India Kurmi-Kshatriya - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK21 PubMed: Ganguly 2020 sporadic case - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK24 PubMed: Ganguly 2020 - - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK37 PubMed: Ganguly 2020 family - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK38 PubMed: Ganguly 2020 sporadic case - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK44 PubMed: Ganguly 2020 family, 2 affected - - India - - - - - 2 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK45 PubMed: Ganguly 2020 - - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK48 PubMed: Ganguly 2020 family - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAT1 PubMed: Ganguly 2020 family, 2 affected - - India - - - - - 2 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAT2 PubMed: Ganguly 2020 - - - India - - - - - 1 Mainak Sengupta
+/. - c.832C>T r.(?) p.(Arg278*) Parent #2 - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Ganguly 2020 - - Germline - - - - - DNA SEQ - - OCA OCAK26 PubMed: Ganguly 2020 sporadic case - - India - - - - - 1 Mainak Sengupta
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P53 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Maternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P64 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Maternal (inferred) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P118 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYR-P119 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Parent #2 - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Maternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYR-P20 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.832C>T r.(?) p.(Arg278Ter) Parent #1 - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam12676 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.832C>T r.(?) p.(Arg278Ter) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam23431 PubMed: Jackson 2020 - - - India Asia - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #1 ACMG pathogenic g.88924382C>T - - - TYR_000023 - - - - Germline - - - - - DNA SEQ BLOOD - OCA alb0018 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+?/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T - - - TYR_000023 - - - - Germline - - - - - DNA SEQ-NG BLOOD - OCA alb009 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T - - - TYR_000023 - - - - Germline - - - - - DNA SEQ-NG BLOOD - OCA alb0029 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T - - - TYR_000023 - - - - Germline - - - - - DNA SEQ BLOOD - OCA alb0045 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T - - - TYR_000023 - - - - Germline - - - - - DNA SEQ BLOOD - OCA alb0026 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 - - - - Germline - - - - - DNA SEQ BLOOD - OCA alb0048 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 - - - - Germline - - - - - DNA SEQ BLOOD - OCA alb0024 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.832C>T r.(?) p.(Arg278*) Parent #2 ACMG pathogenic g.88924382C>T g.89191214C>T - - TYR_000023 - - - - Germline - - - - - DNA SEQ-NG BLOOD - OCA - - - F - India Indian - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+?/. - c.832C>T r.(?) p.(Arg278Ter) Both (homozygous) - likely pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Shakil 2019 - - Germline yes - - - - DNA SEQ - - OCA1 Fam6PatIV4 PubMed: Shakil 2019 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes Pakistan Gujjar - - - - 2 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Paternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat2 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Paternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat5 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Paternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat9 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Paternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat34 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Paternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat38 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Paternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat39 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Both (homozygous) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat41 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Maternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat8 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
+/. 2 c.832C>T r.(?) p.(Arg278Ter) Maternal (confirmed) - pathogenic (recessive) g.88924382C>T g.89191214C>T - - TYR_000023 - PubMed: Chuan 2021 - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat16 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
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