chr17:45996638:C>T 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	chr17:44,074,004-44,074,004 View the variant detail on this assembly version.
hg38	chr17:45,996,638-45,996,638

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.1972C>T	NP_058519.3:p.Leu658=
	NM_001123066.3:c.1774C>T	NP_001116538.2:p.Leu592=
	NM_005910.5:c.796C>T	NP_005901.2:p.Leu266=
	NM_001203251.1:c.709C>T	NP_001190180.1:p.Leu237=
	NM_001203252.1:c.709C>T	NP_001190181.1:p.Leu237=
Ensemble	ENST00000262410.10:c.1972C>T	ENST00000262410.10:p.Leu658=
	ENST00000334239.12:c.622C>T	ENST00000334239.12:p.Leu208=
	ENST00000344290.10:c.1774C>T	ENST00000344290.10:p.Leu592=
	ENST00000351559.10:c.796C>T	ENST00000351559.10:p.Leu266=
	ENST00000415613.6:c.1801C>T	ENST00000415613.6:p.Leu601=
	ENST00000420682.7:c.709C>T	ENST00000420682.7:p.Leu237=
	ENST00000431008.7:c.796C>T	ENST00000431008.7:p.Leu266=
	ENST00000446361.7:c.622C>T	ENST00000446361.7:p.Leu208=
	ENST00000535772.6:c.709C>T	ENST00000535772.6:p.Leu237=
	ENST00000571987.5:c.1747C>T	ENST00000571987.5:p.Leu583=
	ENST00000574436.5:c.796C>T	ENST00000574436.5:p.Leu266=
	ENST00000680674.1:c.622C>T	ENST00000680674.1:p.Leu208=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2018-01-13	criteria provided, single submitter	MAPT-Related Spectrum Disorders	germline	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	Biochemical and pathological characterization of frontotemporal dementia due to ...	BeFree	17072625	Detail
0.461	frontotemporal dementia	A novel L266V mutation of the tau gene causes frontotemporal dementia with a uni...	BeFree	12509859	Detail
0.432	Pick Disease of the Brain	A novel L266V mutation of the tau gene causes frontotemporal dementia with a uni...	BeFree	12509859	Detail
0.461	frontotemporal dementia	Biochemical and pathological characterization of frontotemporal dementia due to ...	BeFree	17072625	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.1972C>T (p.Leu658=) AND MAPT-Related Spectrum Disorders	ClinVar	Detail
NA	DisGeNET	Detail
Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation...	DisGeNET	Detail
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.	DisGeNET	Detail
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.	DisGeNET	Detail
Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation...	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: rs63750349 dbSNP
Genome: hg38
Position: chr17:45,996,638-45,996,638
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8592
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 118938
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.407741848694278E-6

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