chr17:44095993:A>G 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	chr17:44,095,993-44,095,993
hg38	chr17:46,018,627-46,018,627 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2183A>G	NP_058519.3:p.Gln728Arg
	NM_001203251.1:c.827A>G	NP_001190180.1:p.Gln276Arg
	NM_001203252.1:c.827A>G	NP_001190181.1:p.Gln276Arg
	NM_001123066.3:c.1892A>G	NP_001116538.2:p.Gln631Arg
	NM_005910.5:c.1007A>G	NP_005901.2:p.Gln336Arg
Ensemble	ENST00000262410.10:c.2183A>G	ENST00000262410.10:p.Gln728Arg
	ENST00000446361.7:c.833A>G	ENST00000446361.7:p.Gln278Arg
	ENST00000415613.6:c.2012A>G	ENST00000415613.6:p.Gln671Arg
	ENST00000535772.6:c.827A>G	ENST00000535772.6:p.Gln276Arg
	ENST00000344290.10:c.1892A>G	ENST00000344290.10:p.Gln631Arg
	ENST00000574436.5:c.1007A>G	ENST00000574436.5:p.Gln336Arg
	ENST00000420682.7:c.920A>G	ENST00000420682.7:p.Gln307Arg
	ENST00000680674.1:c.956A>G	ENST00000680674.1:p.Gln319Arg
	ENST00000334239.12:c.740A>G	ENST00000334239.12:p.Gln247Arg
	ENST00000431008.7:c.914A>G	ENST00000431008.7:p.Gln305Arg
	ENST00000571987.5:c.1958A>G	ENST00000571987.5:p.Gln653Arg
	ENST00000351559.10:c.1007A>G	ENST00000351559.10:p.Gln336Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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

[No Data.]

MGeND

[No Data.]

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
0.432	Pick Disease of the Brain	Frontotemporal dementia with Pick-type histology associated with Q336R mutation ...	BeFree	15047590	Detail
0.432	Pick Disease of the Brain	We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q35...	BeFree	23998300	Detail
<0.001	Familial Alzheimer Disease (FAD)	We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q35...	BeFree	23998300	Detail
0.461	frontotemporal dementia	Frontotemporal dementia with Pick-type histology associated with Q336R mutation ...	BeFree	15047590	Detail
0.461	frontotemporal dementia	We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q35...	BeFree	23998300	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2183A>G (p.Gln728Arg) AND not provided	ClinVar	Detail
Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene.	DisGeNET	Detail
We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkabl...	DisGeNET	Detail
We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkabl...	DisGeNET	Detail
Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene.	DisGeNET	Detail
We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkabl...	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: rs63750573 dbSNP
Genome: hg19
Position: chr17:44,095,993-44,095,993
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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