chr17:44096092: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	chr17:44,096,092-44,096,092
hg38	chr17:46,018,726-46,018,726 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2282A>T	NP_058519.3:p.Lys761Ile
	NM_001203251.1:c.926A>T	NP_001190180.1:p.Lys309Ile
	NM_001203252.1:c.926A>T	NP_001190181.1:p.Lys309Ile
	NM_001123066.3:c.1991A>T	NP_001116538.2:p.Lys664Ile
	NM_005910.5:c.1106A>T	NP_005901.2:p.Lys369Ile
Ensemble	ENST00000415613.6:c.2111A>T	ENST00000415613.6:p.Lys704Ile
	ENST00000446361.7:c.932A>T	ENST00000446361.7:p.Lys311Ile
	ENST00000262410.10:c.2282A>T	ENST00000262410.10:p.Lys761Ile
	ENST00000535772.6:c.926A>T	ENST00000535772.6:p.Lys309Ile
	ENST00000344290.10:c.1991A>T	ENST00000344290.10:p.Lys664Ile
	ENST00000574436.5:c.1106A>T	ENST00000574436.5:p.Lys369Ile
	ENST00000420682.7:c.1019A>T	ENST00000420682.7:p.Lys340Ile
	ENST00000680674.1:c.1055A>T	ENST00000680674.1:p.Lys352Ile
	ENST00000334239.12:c.839A>T	ENST00000334239.12:p.Lys280Ile
	ENST00000351559.10:c.1106A>T	ENST00000351559.10:p.Lys369Ile
	ENST00000571987.5:c.2057A>T	ENST00000571987.5:p.Lys686Ile
	ENST00000431008.7:c.1013A>T	ENST00000431008.7:p.Lys338Ile

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	2001-10-01	no assertion criteria provided	Pick disease	germline	Detail
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	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) AND Pick disease	ClinVar	Detail
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) AND not provided	ClinVar	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: rs63751264 dbSNP
Genome: hg19
Position: chr17:44,096,092-44,096,092
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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