Full data view for gene MAPT

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 15 c.2170G>A r.(?) p.(Gly724Arg) Unknown - pathogenic g.44101376G>A g.46024010G>A - - MAPT_000080 Point mutation in coding region predicting an amino acid substitution - - rs63750512 Unknown no - - 0 - DNA ? - - FTD - - Possible de novo mutation - - United Kingdom (Great Britain) Caucasian 37y 0 - - 1 Marc Cruts
+/+ 15 c.2170G>A r.(?) p.(Gly724Arg) Unknown - pathogenic g.44101376G>A g.46024010G>A - - MAPT_000080 Point mutation in coding region predicting an amino acid substitution - - rs63750512 Unknown no - - 0 - DNA ? - - FTD - - - - - Australia Caucasian 24y 0 - - 1 Marc Cruts
+/. - c.2170G>A r.(?) p.(Gly724Arg) Unknown - pathogenic g.44101376G>A g.46024010G>A MAPT(NM_005910.5):c.1165G>A (p.G389R) - MAPT_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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