chr17:46010401:G>A 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	chr17:44,087,767-44,087,767 View the variant detail on this assembly version.
hg38	chr17:46,010,401-46,010,401

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_005910.5:c.914G>A	NP_005901.2:p.Ser305Asn
	NM_001123066.3:c.1801-3842G>A
	NM_016835.4:c.2090G>A	NP_058519.3:p.Ser697Asn
	NM_001203251.1:c.736-3842G>A
	NM_001203252.1:c.736-3842G>A
Ensemble	ENST00000351559.10:c.914G>A	ENST00000351559.10:p.Ser305Asn
	ENST00000344290.10:c.1801-3842G>A
	ENST00000262410.10:c.2090G>A	ENST00000262410.10:p.Ser697Asn
	ENST00000446361.7:c.740G>A	ENST00000446361.7:p.Ser247Asn
	ENST00000334239.12:c.649-3842G>A
	ENST00000415613.6:c.1919G>A	ENST00000415613.6:p.Ser640Asn
	ENST00000420682.7:c.827G>A	ENST00000420682.7:p.Ser276Asn
	ENST00000431008.7:c.823-3842G>A
	ENST00000535772.6:c.736-3842G>A
	ENST00000571987.5:c.1865G>A	ENST00000571987.5:p.Ser622Asn
	ENST00000574436.5:c.914G>A	ENST00000574436.5:p.Ser305Asn
	ENST00000680674.1:c.740G>A	ENST00000680674.1:p.Ser247Asn

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		Pick's disease	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb
Pathogenic		early-onset hereditary frontotemporal dementia	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-02-25	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	We report a Japanese family with early onset hereditary frontotemporal dementia ...	BeFree	10208578	Detail
0.461	frontotemporal dementia	We report a Japanese family with early onset hereditary frontotemporal dementia ...	BeFree	10208578	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense...	DisGeNET	Detail
We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense...	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: rs63751165 dbSNP
Genome: hg38
Position: chr17:46,010,401-46,010,401
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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