chr17:46010375:T>C 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	chr17:44,087,741-44,087,741 View the variant detail on this assembly version.
hg38	chr17:46,010,375-46,010,375

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_005910.5:c.888T>C	NP_005901.2:p.Asn296=
	NM_001123066.3:c.1801-3868T>C
	NM_016835.4:c.2064T>C	NP_058519.3:p.Asn688=
	NM_001203251.1:c.736-3868T>C
	NM_001203252.1:c.736-3868T>C
Ensemble	ENST00000351559.10:c.888T>C	ENST00000351559.10:p.Asn296=
	ENST00000344290.10:c.1801-3868T>C
	ENST00000262410.10:c.2064T>C	ENST00000262410.10:p.Asn688=
	ENST00000446361.7:c.714T>C	ENST00000446361.7:p.Asn238=
	ENST00000334239.12:c.649-3868T>C
	ENST00000415613.6:c.1893T>C	ENST00000415613.6:p.Asn631=
	ENST00000420682.7:c.801T>C	ENST00000420682.7:p.Asn267=
	ENST00000431008.7:c.823-3868T>C
	ENST00000535772.6:c.736-3868T>C
	ENST00000571987.5:c.1839T>C	ENST00000571987.5:p.Asn613=
	ENST00000574436.5:c.888T>C	ENST00000574436.5:p.Asn296=
	ENST00000680674.1:c.714T>C	ENST00000680674.1:p.Asn238=

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
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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		Progressive supranuclear palsy	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-05-28	criteria provided, single submitter	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

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) AND not provided	ClinVar	Detail
NA	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: rs63750912 dbSNP
Genome: hg38
Position: chr17:46,010,375-46,010,375
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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