Full data view for gene TPP1

An NCL gene variant database
Information The variants shown are described using the NM_000391.3 transcript reference sequence.

175 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. - c.622C>T r.(?) p.(Arg208*) Paternal (confirmed) ACMG pathogenic g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CLN2 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - 1 Daniel Trujillano
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Wisniewski 2000 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Wisniewski 2000 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Wisniewski 2001 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Wisniewski 2002 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Wisniewski 2003 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Unknown - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Wisniewski 2008 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Mexico - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - United Kingdom (Great Britain) England - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Canada - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Germany - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Germany / Irland-Scottland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - German-Czech/canadian-North American Indian - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Denmark - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Northern European - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Scottland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England-Ireland-Scottland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England-Ireland-American Indian - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - French-Irish-German - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Irish-Scottish-English - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Unknown - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Czech-Ukranian-Welsh - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Polish/Swedish-French-Bohemian - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Polish/Swedish-French-Bohemian - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Poland-Germany/Norway - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Poland-Germany/Norway - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Poland - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Poland - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Norway-Germany-Poland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Norway-Germany-Poland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Italy - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - English-German/Hungarian-Polish-Russian - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Poland-Germany - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Mexico - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Ireland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 JNCL PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Germany-Ireland-Poland-England - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Simonati 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Simonati 2000 - - - Italy - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Simonati 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Simonati 2000 - - - Italy - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Berry-Kravis 2000 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Berry-Kravis 2000 - - - - European / Native American - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 Added entry for 2nd allele. PubMed: Moore 2008 - - Germline - - BfaI+;BstXI- - - DNA SEQ - - CLN ? PubMed: Tessa 2000 - - - Italy - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Unknown - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 Founder effect PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Lavrov 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Lavrov 2002 - - - Russian Federation - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Lavrov 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Lavrov 2002 - - - Russian Federation - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Lavrov 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Lavrov 2002 - - - Russian Federation - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Lavrov 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Lavrov 2002 - - - Russian Federation - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Lavrov 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Lavrov 2002 - - - Russian Federation - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Lavrov 2002 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Lavrov 2002 - - - Russian Federation - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Unknown - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Teixeira 2003 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kohan 2008 - - - Argentina - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Teixeira 2003 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Teixeira 2003b - - - Portugal - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Teixeira 2003 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Teixeira 2003b - - - Portugal - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Moore 2008 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Moore 2008 sibs - - Canada Newfoundland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Moore 2008 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Moore 2008 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Moore 2008 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Moore 2008 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Elleder 2008 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Elleder 2008 - - - Czech Republic - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Portugal - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Czech Republic - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Slovakia (Slovak Republic) - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Czech Republic - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Czech Republic - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Czech Republic - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #2 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Czech Republic - - - - - 1 Sara Mole
?/. 6 c.622C>T r.(?) p.(Arg208*) Parent #1 - VUS g.6638271G>A g.6617040G>A - - TPP1_000043 - PubMed: Kousi 2012 - - Germline - - - - - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Czech Republic - - - - - 1 Sara Mole
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