Full data view for gene MAPT

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

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown yes - - 0 - DNA ? - - FTD - - - - - Australia Caucasian 62y 0 - - 28 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 61y06m 0 - - 2 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown yes - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 60y02m 0 - - 4 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 57y 0 - - 3 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 63y 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 58y 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 62y 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 59y02m 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown yes - - 0 - DNA ? - - FTD - - - - - United States - - 0 - - 3 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 57y01m 0 - - 9 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 58y04m 0 - - 3 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 60y04m 0 - - 3 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 59y 0 - - 5 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 67y 0 - - 3 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 62y 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 68y 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 65y06m 0 - - 3 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 51y04m 0 - - 2 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown yes - - 0 - DNA ? - - HDLS - - - - - United States - - 0 - - 4 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - ? - - - - - - - 45y 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD, PD - - - - - United States - - 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD, PD - - - - - Australia Caucasian 60y04m 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown yes - - 0 - DNA ? - - AD, FTD - - - - - United Kingdom (Great Britain) Caucasian 51y06m 0 - - 6 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - AD, FTD - - - - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 2 Marc Cruts
+/+ 12i c.1920+16C>T r.(?) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
+/. - c.1920+16C>T r.(=) p.(=) Unknown - pathogenic g.44087784C>T g.46010418C>T MAPT(NM_005910.5):c.915+16C>T - MAPT_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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