chr17:46010373:A>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	chr17:44,087,739-44,087,739 View the variant detail on this assembly version.
hg38	chr17:46,010,373-46,010,373

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_001123066.3:c.1801-3870A>C
	NM_005910.5:c.886A>C	NP_005901.2:p.Asn296His
	NM_016835.4:c.2062A>C	NP_058519.3:p.Asn688His
	NM_001203251.1:c.736-3870A>C
	NM_001203252.1:c.736-3870A>C
Ensemble	ENST00000344290.10:c.1801-3870A>C
	ENST00000351559.10:c.886A>C	ENST00000351559.10:p.Asn296His
	ENST00000446361.7:c.712A>C	ENST00000446361.7:p.Asn238His
	ENST00000262410.10:c.2062A>C	ENST00000262410.10:p.Asn688His
	ENST00000334239.12:c.649-3870A>C
	ENST00000415613.6:c.1891A>C	ENST00000415613.6:p.Asn631His
	ENST00000420682.7:c.799A>C	ENST00000420682.7:p.Asn267His
	ENST00000431008.7:c.823-3870A>C
	ENST00000535772.6:c.736-3870A>C
	ENST00000571987.5:c.1837A>C	ENST00000571987.5:p.Asn613His
	ENST00000574436.5:c.886A>C	ENST00000574436.5:p.Asn296His
	ENST00000680674.1:c.712A>C	ENST00000680674.1:p.Asn238His

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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		parkinson disease	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb
Pathogenic		Parkinson Disease	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.017	Frontotemporal Lobar Degeneration	Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice s...	BeFree	16552612	Detail
0.043	Neurofibrillary degeneration (morphologic abnormality)	Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice s...	BeFree	16552612	Detail
0.170	Parkinsonian Disorders	Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in...	BeFree	11585254	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2062A>C (p.Asn688His) AND not provided	ClinVar	Detail
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed...	DisGeNET	Detail
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed...	DisGeNET	Detail
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau ...	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: rs63750416 dbSNP
Genome: hg38
Position: chr17:46,010,373-46,010,373
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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