Full data view for gene PPT1

An NCL gene variant database
Information The variants shown are described using the NM_000310.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database Siblings - - England - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - England - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database Siblings - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada French Canadian; Irish - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Norwegian; German; Irish; English - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Scottish; Irish; English; French; French Canadian - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Scottish; Irish; German; Hungarian - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada German; Irish - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Waliany 2000, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 10649502-? PubMed: Waliany 2000, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #2 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Kousi 2012, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #2 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Kousi 2012, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database Siblings - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database very mild clinical course - - United States; Canada Scottish - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Waliany 2000, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 10649502-? PubMed: Waliany 2000, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Kousi 2012, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - pathogenic g.40558081T>G g.40092409T>G PPT1(NM_000310.4):c.223A>C (p.T75P) - PPT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.223A>C r.(?) p.(Thr75Pro) Parent #1 - likely pathogenic g.40558081T>G g.40092409T>G - - PPT1_000055 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 627 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Parent #1 - likely pathogenic g.40558081T>G g.40092409T>G - - PPT1_000055 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 628 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - likely pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro) - PPT1_000055 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 4 PubMed: Jilani 2019 - F no - - - - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - likely pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro) - PPT1_000055 Compound heterozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 6 PubMed: Jilani 2019 - M ? - - 2y10m - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - likely pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro) - PPT1_000055 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 2 PubMed: Jilani 2019 - M no - - - - - - 1 LOVD
?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - VUS g.40558081T>G g.40092409T>G PPT1 nucleotide 1, protein 1:c.223A>C, p.Thr75Pro nucleotide 2, protein 2:c.325T>G, p.Tyr109Asp - PPT1_000055 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 82 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
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