chr17:44096011: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	chr17:44,096,011-44,096,011
hg38	chr17:46,018,645-46,018,645 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_001203251.1:c.845A>T	NP_001190180.1:p.Glu282Val
	NM_001203252.1:c.845A>T	NP_001190181.1:p.Glu282Val
	NM_001123066.3:c.1910A>T	NP_001116538.2:p.Glu637Val
	NM_016835.4:c.2201A>T	NP_058519.3:p.Glu734Val
	NM_005910.5:c.1025A>T	NP_005901.2:p.Glu342Val
Ensemble	ENST00000535772.6:c.845A>T	ENST00000535772.6:p.Glu282Val
	ENST00000344290.10:c.1910A>T	ENST00000344290.10:p.Glu637Val
	ENST00000574436.5:c.1025A>T	ENST00000574436.5:p.Glu342Val
	ENST00000446361.7:c.851A>T	ENST00000446361.7:p.Glu284Val
	ENST00000415613.6:c.2030A>T	ENST00000415613.6:p.Glu677Val
	ENST00000262410.10:c.2201A>T	ENST00000262410.10:p.Glu734Val
	ENST00000351559.10:c.1025A>T	ENST00000351559.10:p.Glu342Val
	ENST00000431008.7:c.932A>T	ENST00000431008.7:p.Glu311Val
	ENST00000571987.5:c.1976A>T	ENST00000571987.5:p.Glu659Val
	ENST00000334239.12:c.758A>T	ENST00000334239.12:p.Glu253Val
	ENST00000420682.7:c.938A>T	ENST00000420682.7:p.Glu313Val
	ENST00000680674.1:c.974A>T	ENST00000680674.1:p.Glu325Val

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	2000-12-01	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 on a 55-year old woman with frontotemporal dementia and a family histo...	BeFree	11117541	Detail
0.461	frontotemporal dementia	We report on a 55-year old woman with frontotemporal dementia and a family histo...	BeFree	11117541	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in who...	DisGeNET	Detail
We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in who...	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: rs63750711 dbSNP
Genome: hg19
Position: chr17:44,096,011-44,096,011
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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