chr17:45996638:C>G Detail (hg38) (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	chr17:44,074,004-44,074,004 View the variant detail on this assembly version.
hg38	chr17:45,996,638-45,996,638

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.1972C>G	NP_058519.3:p.Leu658Val
	NM_001123066.3:c.1774C>G	NP_001116538.2:p.Leu592Val
	NM_005910.5:c.796C>G	NP_005901.2:p.Leu266Val
	NM_001203251.1:c.709C>G	NP_001190180.1:p.Leu237Val
	NM_001203252.1:c.709C>G	NP_001190181.1:p.Leu237Val
Ensemble	ENST00000262410.10:c.1972C>G	ENST00000262410.10:p.Leu658Val
	ENST00000334239.12:c.622C>G	ENST00000334239.12:p.Leu208Val
	ENST00000344290.10:c.1774C>G	ENST00000344290.10:p.Leu592Val
	ENST00000351559.10:c.796C>G	ENST00000351559.10:p.Leu266Val
	ENST00000415613.6:c.1801C>G	ENST00000415613.6:p.Leu601Val
	ENST00000420682.7:c.709C>G	ENST00000420682.7:p.Leu237Val
	ENST00000431008.7:c.796C>G	ENST00000431008.7:p.Leu266Val
	ENST00000446361.7:c.622C>G	ENST00000446361.7:p.Leu208Val
	ENST00000535772.6:c.709C>G	ENST00000535772.6:p.Leu237Val
	ENST00000571987.5:c.1747C>G	ENST00000571987.5:p.Leu583Val
	ENST00000574436.5:c.796C>G	ENST00000574436.5:p.Leu266Val
	ENST00000680674.1:c.622C>G	ENST00000680674.1:p.Leu208Val

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		early-onset progressive supranuclear palsy (PSP)	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-09-21	criteria provided, multiple submitters, no conflicts	frontotemporal dementia	germline unknown	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	Biochemical and pathological characterization of frontotemporal dementia due to ...	BeFree	17072625	Detail
0.461	frontotemporal dementia	A novel L266V mutation of the tau gene causes frontotemporal dementia with a uni...	BeFree	12509859	Detail
0.432	Pick Disease of the Brain	A novel L266V mutation of the tau gene causes frontotemporal dementia with a uni...	BeFree	12509859	Detail
0.461	frontotemporal dementia	Biochemical and pathological characterization of frontotemporal dementia due to ...	BeFree	17072625	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation...	DisGeNET	Detail
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.	DisGeNET	Detail
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.	DisGeNET	Detail
Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation...	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: rs63750349 dbSNP
Genome: hg38
Position: chr17:45,996,638-45,996,638
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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