chr17:44091643:A>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	chr17:44,091,643-44,091,643
hg38	chr17:46,014,277-46,014,277 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_005910.5:c.950A>T	NP_005901.2:p.Lys317Met
	NM_016835.4:c.2126A>T	NP_058519.3:p.Lys709Met
	NM_001123066.3:c.1835A>T	NP_001116538.2:p.Lys612Met
	NM_001203251.1:c.770A>T	NP_001190180.1:p.Lys257Met
	NM_001203252.1:c.770A>T	NP_001190181.1:p.Lys257Met
Ensemble	ENST00000680674.1:c.776A>T	ENST00000680674.1:p.Lys259Met
	ENST00000420682.7:c.863A>T	ENST00000420682.7:p.Lys288Met
	ENST00000334239.12:c.683A>T	ENST00000334239.12:p.Lys228Met
	ENST00000351559.10:c.950A>T	ENST00000351559.10:p.Lys317Met
	ENST00000571987.5:c.1901A>T	ENST00000571987.5:p.Lys634Met
	ENST00000431008.7:c.857A>T	ENST00000431008.7:p.Lys286Met
	ENST00000415613.6:c.1955A>T	ENST00000415613.6:p.Lys652Met
	ENST00000446361.7:c.776A>T	ENST00000446361.7:p.Lys259Met
	ENST00000262410.10:c.2126A>T	ENST00000262410.10:p.Lys709Met
	ENST00000574436.5:c.950A>T	ENST00000574436.5:p.Lys317Met
	ENST00000344290.10:c.1835A>T	ENST00000344290.10:p.Lys612Met
	ENST00000535772.6:c.770A>T	ENST00000535772.6:p.Lys257Met

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-05-10	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
<0.001	motor neuron disease	A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.	BeFree	15883319	Detail
0.461	frontotemporal dementia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) AND not provided	ClinVar	Detail
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.	DisGeNET	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: rs63750092 dbSNP
Genome: hg19
Position: chr17:44,091,643-44,091,643
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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