chr17:44087754:C>T Detail (hg19) (MAPT)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:44,087,754-44,087,754
hg38	chr17:46,010,388-46,010,388 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_001123066.3:c.1801-3855C>T
	NM_005910.5:c.901C>T	NP_005901.2:p.Pro301Ser
	NM_001203251.1:c.736-3855C>T
	NM_001203252.1:c.736-3855C>T
	NM_016835.4:c.2077C>T	NP_058519.3:p.Pro693Ser
Ensemble	ENST00000415613.6:c.1906C>T	ENST00000415613.6:p.Pro636Ser
	ENST00000334239.12:c.649-3855C>T
	ENST00000574436.5:c.901C>T	ENST00000574436.5:p.Pro301Ser
	ENST00000571987.5:c.1852C>T	ENST00000571987.5:p.Pro618Ser
	ENST00000344290.10:c.1801-3855C>T
	ENST00000420682.7:c.814C>T	ENST00000420682.7:p.Pro272Ser
	ENST00000351559.10:c.901C>T	ENST00000351559.10:p.Pro301Ser
	ENST00000535772.6:c.736-3855C>T
	ENST00000446361.7:c.727C>T	ENST00000446361.7:p.Pro243Ser
	ENST00000431008.7:c.823-3855C>T
	ENST00000262410.10:c.2077C>T	ENST00000262410.10:p.Pro693Ser
	ENST00000680674.1:c.727C>T	ENST00000680674.1:p.Pro243Ser

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

MAPT

Type	Database	ID	Link
Gene	MIM	157140	OMIM
	HGNC	6893	HGNC
	Ensembl	ENSG00000186868	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-12-01	no assertion criteria provided	frontotemporal dementia	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.461	frontotemporal dementia	NA	CLINVAR		Detail
0.432	Pick Disease of the Brain	Our strategy was to use the natural tau promoter for expressing the human-tau (h...	BeFree	18490011	Detail
0.461	frontotemporal dementia	Our strategy was to use the natural tau promoter for expressing the human-tau (h...	BeFree	18490011	Detail
0.170	Parkinsonian Disorders	Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a J...	BeFree	12796837	Detail
0.170	Parkinsonian Disorders	In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome...	BeFree	17318302	Detail
0.209	Tauopathies	To understand the relationship between tau pathology and behavioral impairments,...	BeFree	21698260	Detail
0.461	frontotemporal dementia	Recent findings, showing the presence of an inflammatory process in the brain of...	BeFree	21212632	Detail
0.209	Tauopathies	The P301S mutation in exon 10 of the tau gene causes a hereditary tauopathy.	BeFree	25437199	Detail
0.432	Pick Disease of the Brain	Recent findings, showing the presence of an inflammatory process in the brain of...	BeFree	21212632	Detail
0.461	frontotemporal dementia	In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome...	BeFree	17318302	Detail
0.209	Tauopathies	Mice transgenic for human P301S tau protein exhibit many characteristics of huma...	BeFree	20004218	Detail
0.432	Pick Disease of the Brain	In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome...	BeFree	17318302	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two m...	DisGeNET	Detail
Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two m...	DisGeNET	Detail
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.	DisGeNET	Detail
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a...	DisGeNET	Detail
To understand the relationship between tau pathology and behavioral impairments, we comprehensively ...	DisGeNET	Detail
Recent findings, showing the presence of an inflammatory process in the brain of transgenic mice exp...	DisGeNET	Detail
The P301S mutation in exon 10 of the tau gene causes a hereditary tauopathy.	DisGeNET	Detail
Recent findings, showing the presence of an inflammatory process in the brain of transgenic mice exp...	DisGeNET	Detail
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a...	DisGeNET	Detail
Mice transgenic for human P301S tau protein exhibit many characteristics of human tauopathies, inclu...	DisGeNET	Detail
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs63751438 dbSNP
Genome: hg19
Position: chr17:44,087,754-44,087,754
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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