chr17:45996657: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	chr17:44,074,023-44,074,023 View the variant detail on this assembly version.
hg38	chr17:45,996,657-45,996,657

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_016835.4:c.1991G>T	NP_058519.3:p.Gly664Val
	NM_001123066.3:c.1793G>T	NP_001116538.2:p.Gly598Val
	NM_005910.5:c.815G>T	NP_005901.2:p.Gly272Val
	NM_001203251.1:c.728G>T	NP_001190180.1:p.Gly243Val
	NM_001203252.1:c.728G>T	NP_001190181.1:p.Gly243Val
Ensemble	ENST00000262410.10:c.1991G>T	ENST00000262410.10:p.Gly664Val
	ENST00000334239.12:c.641G>T	ENST00000334239.12:p.Gly214Val
	ENST00000344290.10:c.1793G>T	ENST00000344290.10:p.Gly598Val
	ENST00000351559.10:c.815G>T	ENST00000351559.10:p.Gly272Val
	ENST00000415613.6:c.1820G>T	ENST00000415613.6:p.Gly607Val
	ENST00000420682.7:c.728G>T	ENST00000420682.7:p.Gly243Val
	ENST00000431008.7:c.815G>T	ENST00000431008.7:p.Gly272Val
	ENST00000446361.7:c.641G>T	ENST00000446361.7:p.Gly214Val
	ENST00000535772.6:c.728G>T	ENST00000535772.6:p.Gly243Val
	ENST00000571987.5:c.1766G>T	ENST00000571987.5:p.Gly589Val
	ENST00000574436.5:c.815G>T	ENST00000574436.5:p.Gly272Val
	ENST00000680674.1:c.641G>T	ENST00000680674.1:p.Gly214Val

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	2021-05-06	no assertion criteria provided	frontotemporal dementia	germline	Detail
not provided		no assertion provided	not provided	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
0.461	frontotemporal dementia	NA	CLINVAR		Detail
0.461	frontotemporal dementia	We have studied biochemical and structural parameters of several missense and de...	BeFree	10995239	Detail
0.432	Pick Disease of the Brain	We have studied biochemical and structural parameters of several missense and de...	BeFree	10995239	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) AND Frontotemporal dementia	ClinVar	Detail
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) 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
NA	DisGeNET	Detail
We have studied biochemical and structural parameters of several missense and deletion mutants of ta...	DisGeNET	Detail
We have studied biochemical and structural parameters of several missense and deletion mutants of ta...	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: rs63750376 dbSNP
Genome: hg38
Position: chr17:45,996,657-45,996,657
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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