chr17:44095995:G>A 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	chr17:44,095,995-44,095,995
hg38	chr17:46,018,629-46,018,629 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2185G>A	NP_058519.3:p.Val729Met
	NM_001203251.1:c.829G>A	NP_001190180.1:p.Val277Met
	NM_001203252.1:c.829G>A	NP_001190181.1:p.Val277Met
	NM_001123066.3:c.1894G>A	NP_001116538.2:p.Val632Met
	NM_005910.5:c.1009G>A	NP_005901.2:p.Val337Met
Ensemble	ENST00000262410.10:c.2185G>A	ENST00000262410.10:p.Val729Met
	ENST00000446361.7:c.835G>A	ENST00000446361.7:p.Val279Met
	ENST00000415613.6:c.2014G>A	ENST00000415613.6:p.Val672Met
	ENST00000535772.6:c.829G>A	ENST00000535772.6:p.Val277Met
	ENST00000574436.5:c.1009G>A	ENST00000574436.5:p.Val337Met
	ENST00000344290.10:c.1894G>A	ENST00000344290.10:p.Val632Met
	ENST00000334239.12:c.742G>A	ENST00000334239.12:p.Val248Met
	ENST00000680674.1:c.958G>A	ENST00000680674.1:p.Val320Met
	ENST00000420682.7:c.922G>A	ENST00000420682.7:p.Val308Met
	ENST00000431008.7:c.916G>A	ENST00000431008.7:p.Val306Met
	ENST00000571987.5:c.1960G>A	ENST00000571987.5:p.Val654Met
	ENST00000351559.10:c.1009G>A	ENST00000351559.10:p.Val337Met

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	2020-11-18	criteria provided, single submitter	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
0.461	frontotemporal dementia	Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerizat...	BeFree	16155344	Detail
0.004	frontotemporal dementia	Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerizat...	BeFree	16155344	Detail
0.461	frontotemporal dementia	We have studied biochemical and structural parameters of several missense and de...	BeFree	10995239	Detail
0.432	Pick Disease of the Brain	We have studied biochemical and structural parameters of several missense and de...	BeFree	10995239	Detail
0.461	frontotemporal dementia	Conditional expression systems for 4-repeat wild-type (WT) tau or the correspond...	BeFree	12414518	Detail
0.432	Pick Disease of the Brain	Here, we address this question using a mouse model expressing the entire human t...	BeFree	25471585	Detail
0.461	frontotemporal dementia	The conclusion is that the type and distribution of tau deposits in HFTD1 and HF...	BeFree	9811325	Detail
0.461	frontotemporal dementia	Here, we address this question using a mouse model expressing the entire human t...	BeFree	25471585	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter...	DisGeNET	Detail
Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter...	DisGeNET	Detail
We have studied biochemical and structural parameters of several missense and deletion mutants of ta...	DisGeNET	Detail
We have studied biochemical and structural parameters of several missense and deletion mutants of ta...	DisGeNET	Detail
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M an...	DisGeNET	Detail
Here, we address this question using a mouse model expressing the entire human tau gene with an FTD-...	DisGeNET	Detail
The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical st...	DisGeNET	Detail
Here, we address this question using a mouse model expressing the entire human tau gene with an FTD-...	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: rs63750570 dbSNP
Genome: hg19
Position: chr17:44,095,995-44,095,995
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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