chr17:46014286: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	chr17:44,091,652-44,091,652 View the variant detail on this assembly version.
hg38	chr17:46,014,286-46,014,286

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.2135C>T	NP_058519.3:p.Ser712Phe
	NM_001123066.3:c.1844C>T	NP_001116538.2:p.Ser615Phe
	NM_005910.5:c.959C>T	NP_005901.2:p.Ser320Phe
	NM_001203251.1:c.779C>T	NP_001190180.1:p.Ser260Phe
	NM_001203252.1:c.779C>T	NP_001190181.1:p.Ser260Phe
Ensemble	ENST00000262410.10:c.2135C>T	ENST00000262410.10:p.Ser712Phe
	ENST00000334239.12:c.692C>T	ENST00000334239.12:p.Ser231Phe
	ENST00000344290.10:c.1844C>T	ENST00000344290.10:p.Ser615Phe
	ENST00000351559.10:c.959C>T	ENST00000351559.10:p.Ser320Phe
	ENST00000415613.6:c.1964C>T	ENST00000415613.6:p.Ser655Phe
	ENST00000420682.7:c.872C>T	ENST00000420682.7:p.Ser291Phe
	ENST00000431008.7:c.866C>T	ENST00000431008.7:p.Ser289Phe
	ENST00000446361.7:c.785C>T	ENST00000446361.7:p.Ser262Phe
	ENST00000535772.6:c.779C>T	ENST00000535772.6:p.Ser260Phe
	ENST00000571987.5:c.1910C>T	ENST00000571987.5:p.Ser637Phe
	ENST00000574436.5:c.959C>T	ENST00000574436.5:p.Ser320Phe
	ENST00000680674.1:c.785C>T	ENST00000680674.1:p.Ser262Phe

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2002-03-01	no assertion criteria provided	Pick disease	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2018-01-22	criteria provided, single submitter	frontotemporal dementia	germline	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
0.432	Pick Disease of the Brain	NA	CLINVAR		Detail
0.019	Presenile dementia	In this article, we describe a novel missense mutation, S320F, in the tau gene i...	BeFree	11891833	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) AND Pick disease	ClinVar	Detail
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) AND not provided	ClinVar	Detail
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) AND Frontotemporal dementia	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
NA	DisGeNET	Detail
In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with pres...	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: rs63750635 dbSNP
Genome: hg38
Position: chr17:46,014,286-46,014,286
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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