chr17:45996612:A>C Detail (hg38) (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	chr17:44,073,978-44,073,978 View the variant detail on this assembly version.
hg38	chr17:45,996,612-45,996,612

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.1946A>C	NP_058519.3:p.Lys649Thr
	NM_001123066.3:c.1748A>C	NP_001116538.2:p.Lys583Thr
	NM_005910.5:c.770A>C	NP_005901.2:p.Lys257Thr
	NM_001203251.1:c.683A>C	NP_001190180.1:p.Lys228Thr
	NM_001203252.1:c.683A>C	NP_001190181.1:p.Lys228Thr
Ensemble	ENST00000262410.10:c.1946A>C	ENST00000262410.10:p.Lys649Thr
	ENST00000334239.12:c.596A>C	ENST00000334239.12:p.Lys199Thr
	ENST00000344290.10:c.1748A>C	ENST00000344290.10:p.Lys583Thr
	ENST00000351559.10:c.770A>C	ENST00000351559.10:p.Lys257Thr
	ENST00000415613.6:c.1775A>C	ENST00000415613.6:p.Lys592Thr
	ENST00000420682.7:c.683A>C	ENST00000420682.7:p.Lys228Thr
	ENST00000431008.7:c.770A>C	ENST00000431008.7:p.Lys257Thr
	ENST00000446361.7:c.596A>C	ENST00000446361.7:p.Lys199Thr
	ENST00000535772.6:c.683A>C	ENST00000535772.6:p.Lys228Thr
	ENST00000571987.5:c.1721A>C	ENST00000571987.5:p.Lys574Thr
	ENST00000574436.5:c.770A>C	ENST00000574436.5:p.Lys257Thr
	ENST00000680674.1:c.596A>C	ENST00000680674.1:p.Lys199Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2000-12-01	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
0.209	Tauopathies	Tau gene mutation K257T causes a tauopathy similar to Pick's disease.	BeFree	11089577	Detail
0.432	Pick Disease of the Brain	Our strategy was to use the natural tau promoter for expressing the human-tau (h...	BeFree	18490011	Detail
0.461	frontotemporal dementia	Our strategy was to use the natural tau promoter for expressing the human-tau (h...	BeFree	18490011	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) AND Pick disease	ClinVar	Detail
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Tau gene mutation K257T causes a tauopathy similar to Pick's disease.	DisGeNET	Detail
Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two m...	DisGeNET	Detail
Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two m...	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: rs63750129 dbSNP
Genome: hg38
Position: chr17:45,996,612-45,996,612
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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