chr17:44039717:G>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	chr17:44,039,717-44,039,717
hg38	chr17:45,962,351-45,962,351 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.14G>T	NP_058519.3:p.Arg5Leu
	NM_001203251.1:c.14G>T	NP_001190180.1:p.Arg5Leu
	NM_001203252.1:c.14G>T	NP_001190181.1:p.Arg5Leu
	NM_001123066.3:c.14G>T	NP_001116538.2:p.Arg5Leu
	NM_005910.5:c.14G>T	NP_005901.2:p.Arg5Leu
Ensemble	ENST00000262410.10:c.14G>T	ENST00000262410.10:p.Arg5Leu
	ENST00000446361.7:c.14G>T	ENST00000446361.7:p.Arg5Leu
	ENST00000415613.6:c.14G>T	ENST00000415613.6:p.Arg5Leu
	ENST00000535772.6:c.14G>T	ENST00000535772.6:p.Arg5Leu
	ENST00000344290.10:c.14G>T	ENST00000344290.10:p.Arg5Leu
	ENST00000574436.5:c.14G>T	ENST00000574436.5:p.Arg5Leu
	ENST00000420682.7:c.14G>T	ENST00000420682.7:p.Arg5Leu
	ENST00000680674.1:c.14G>T	ENST00000680674.1:p.Arg5Leu
	ENST00000334239.12:c.14G>T	ENST00000334239.12:p.Arg5Leu
	ENST00000431008.7:c.14G>T	ENST00000431008.7:p.Arg5Leu
	ENST00000571987.5:c.14G>T	ENST00000571987.5:p.Arg5Leu
	ENST00000351559.10:c.14G>T	ENST00000351559.10:p.Arg5Leu

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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2017-09-13	no assertion criteria provided	Supranuclear palsy, progressive, 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.461	frontotemporal dementia	NA	CLINVAR		Detail
0.558	progressive supranuclear palsy	NA	CLINVAR		Detail
0.461	frontotemporal dementia	Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutati...	UNIPROT	11921059	Detail
0.432	Pick Disease of the Brain	Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutati...	BeFree	11921059	Detail
0.558	progressive supranuclear palsy	MAPT, the gene encoding tau, was screened for mutations in 96 progressive supran...	UNIPROT	12325083	Detail
0.233	dementia	Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality...	BeFree	11921059	Detail
0.019	Presenile dementia	Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality...	BeFree	11921059	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu) AND not provided	ClinVar	Detail
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu) AND Supranuclear palsy, progressive, 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.	DisGeNET	Detail
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.	DisGeNET	Detail
MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subject...	DisGeNET	Detail
Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the...	DisGeNET	Detail
Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the...	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: rs63750959 dbSNP
Genome: hg19
Position: chr17:44,039,717-44,039,717
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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