chr17:46018675: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	chr17:44,096,041-44,096,041 View the variant detail on this assembly version.
hg38	chr17:46,018,675-46,018,675

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2231C>T	NP_058519.3:p.Ser744Leu
	NM_001123066.3:c.1940C>T	NP_001116538.2:p.Ser647Leu
	NM_005910.5:c.1055C>T	NP_005901.2:p.Ser352Leu
	NM_001203251.1:c.875C>T	NP_001190180.1:p.Ser292Leu
	NM_001203252.1:c.875C>T	NP_001190181.1:p.Ser292Leu
Ensemble	ENST00000262410.10:c.2231C>T	ENST00000262410.10:p.Ser744Leu
	ENST00000334239.12:c.788C>T	ENST00000334239.12:p.Ser263Leu
	ENST00000344290.10:c.1940C>T	ENST00000344290.10:p.Ser647Leu
	ENST00000351559.10:c.1055C>T	ENST00000351559.10:p.Ser352Leu
	ENST00000415613.6:c.2060C>T	ENST00000415613.6:p.Ser687Leu
	ENST00000420682.7:c.968C>T	ENST00000420682.7:p.Ser323Leu
	ENST00000431008.7:c.962C>T	ENST00000431008.7:p.Ser321Leu
	ENST00000446361.7:c.881C>T	ENST00000446361.7:p.Ser294Leu
	ENST00000535772.6:c.875C>T	ENST00000535772.6:p.Ser292Leu
	ENST00000571987.5:c.2006C>T	ENST00000571987.5:p.Ser669Leu
	ENST00000574436.5:c.1055C>T	ENST00000574436.5:p.Ser352Leu
	ENST00000680674.1:c.1004C>T	ENST00000680674.1:p.Ser335Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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	COSM4754031	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	2003-11-01	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

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu) AND not provided	ClinVar	Detail
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu) AND Supranuclear palsy, progressive, 1	ClinVar	Detail
NA	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: rs63750425 dbSNP
Genome: hg38
Position: chr17:46,018,675-46,018,675
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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