chr17:46010395:G>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	chr17:44,087,761-44,087,761 View the variant detail on this assembly version.
hg38	chr17:46,010,395-46,010,395

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2084G>T	NP_058519.3:p.Gly695Val
	NM_001123066.3:c.1801-3848G>T
	NM_005910.5:c.908G>T	NP_005901.2:p.Gly303Val
	NM_001203251.1:c.736-3848G>T
	NM_001203252.1:c.736-3848G>T
Ensemble	ENST00000262410.10:c.2084G>T	ENST00000262410.10:p.Gly695Val
	ENST00000334239.12:c.649-3848G>T
	ENST00000344290.10:c.1801-3848G>T
	ENST00000351559.10:c.908G>T	ENST00000351559.10:p.Gly303Val
	ENST00000415613.6:c.1913G>T	ENST00000415613.6:p.Gly638Val
	ENST00000420682.7:c.821G>T	ENST00000420682.7:p.Gly274Val
	ENST00000431008.7:c.823-3848G>T
	ENST00000446361.7:c.734G>T	ENST00000446361.7:p.Gly245Val
	ENST00000535772.6:c.736-3848G>T
	ENST00000571987.5:c.1859G>T	ENST00000571987.5:p.Gly620Val
	ENST00000574436.5:c.908G>T	ENST00000574436.5:p.Gly303Val
	ENST00000680674.1:c.734G>T	ENST00000680674.1:p.Gly245Val

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	2005-09-01	no assertion criteria provided	Supranuclear palsy, progressive, 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.558	progressive supranuclear palsy	NA	CLINVAR		Detail
<0.001	Familial progressive supranuclear palsy	A new mutation of the tau gene, G303V, in early-onset familial progressive supra...	BeFree	16157753	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val) AND not provided	ClinVar	Detail
NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val) AND Supranuclear palsy, progressive, 1	ClinVar	Detail
NA	DisGeNET	Detail
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.	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: rs63751391 dbSNP
Genome: hg38
Position: chr17:46,010,395-46,010,395
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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