chr17:46014271:T>G 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	chr17:44,091,637-44,091,637 View the variant detail on this assembly version.
hg38	chr17:46,014,271-46,014,271

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2120T>G	NP_058519.3:p.Leu707Arg
	NM_001123066.3:c.1829T>G	NP_001116538.2:p.Leu610Arg
	NM_005910.5:c.944T>G	NP_005901.2:p.Leu315Arg
	NM_001203251.1:c.764T>G	NP_001190180.1:p.Leu255Arg
	NM_001203252.1:c.764T>G	NP_001190181.1:p.Leu255Arg
Ensemble	ENST00000262410.10:c.2120T>G	ENST00000262410.10:p.Leu707Arg
	ENST00000334239.12:c.677T>G	ENST00000334239.12:p.Leu226Arg
	ENST00000344290.10:c.1829T>G	ENST00000344290.10:p.Leu610Arg
	ENST00000351559.10:c.944T>G	ENST00000351559.10:p.Leu315Arg
	ENST00000415613.6:c.1949T>G	ENST00000415613.6:p.Leu650Arg
	ENST00000420682.7:c.857T>G	ENST00000420682.7:p.Leu286Arg
	ENST00000431008.7:c.851T>G	ENST00000431008.7:p.Leu284Arg
	ENST00000446361.7:c.770T>G	ENST00000446361.7:p.Leu257Arg
	ENST00000535772.6:c.764T>G	ENST00000535772.6:p.Leu255Arg
	ENST00000571987.5:c.1895T>G	ENST00000571987.5:p.Leu632Arg
	ENST00000574436.5:c.944T>G	ENST00000574436.5:p.Leu315Arg
	ENST00000680674.1:c.770T>G	ENST00000680674.1:p.Leu257Arg

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		no assertion criteria provided	not provided	germline not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.019	Presenile dementia	Dementia in one or more first-degree family members was found in 43% of patients...	BeFree	12876142	Detail
0.233	dementia	Dementia in one or more first-degree family members was found in 43% of patients...	BeFree	12876142	Detail
0.558	progressive supranuclear palsy	Novel L284R MAPT mutation in a family with an autosomal dominant progressive sup...	BeFree	20838030	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) AND not provided	ClinVar	Detail
Dementia in one or more first-degree family members was found in 43% of patients and mutation analys...	DisGeNET	Detail
Dementia in one or more first-degree family members was found in 43% of patients and mutation analys...	DisGeNET	Detail
Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy synd...	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: rs63749855 dbSNP
Genome: hg38
Position: chr17:46,014,271-46,014,271
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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