chr17:44101376:G>A 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	chr17:44,101,376-44,101,376
hg38	chr17:46,024,010-46,024,010 View the variant detail on this assembly version.

HGVS

MAPT

Type	Transcript	Protein
RefSeq	NM_005910.5:c.1165G>A	NP_005901.2:p.Gly389Arg
	NM_016835.4:c.2341G>A	NP_058519.3:p.Gly781Arg
	NM_001123066.3:c.2050G>A	NP_001116538.2:p.Gly684Arg
	NM_001203251.1:c.985G>A	NP_001190180.1:p.Gly329Arg
	NM_001203252.1:c.985G>A	NP_001190181.1:p.Gly329Arg
Ensemble	ENST00000420682.7:c.1078G>A	ENST00000420682.7:p.Gly360Arg
	ENST00000680674.1:c.1114G>A	ENST00000680674.1:p.Gly372Arg
	ENST00000334239.12:c.898G>A	ENST00000334239.12:p.Gly300Arg
	ENST00000571987.5:c.2116G>A	ENST00000571987.5:p.Gly706Arg
	ENST00000351559.10:c.1165G>A	ENST00000351559.10:p.Gly389Arg
	ENST00000262410.10:c.2341G>A	ENST00000262410.10:p.Gly781Arg
	ENST00000431008.7:c.1072G>A	ENST00000431008.7:p.Gly358Arg
	ENST00000415613.6:c.2170G>A	ENST00000415613.6:p.Gly724Arg
	ENST00000446361.7:c.991G>A	ENST00000446361.7:p.Gly331Arg
	ENST00000344290.10:c.2050G>A	ENST00000344290.10:p.Gly684Arg
	ENST00000574436.5:c.1165G>A	ENST00000574436.5:p.Gly389Arg
	ENST00000535772.6:c.985G>A	ENST00000535772.6:p.Gly329Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM6708178	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-12-01	no assertion criteria provided	Pick disease	germline	Detail
Likely pathogenic	2017-05-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-04-16	criteria provided, single submitter	frontotemporal dementia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.432	Pick Disease of the Brain	NA	CLINVAR		Detail
0.019	Presenile dementia	The present findings indicate that the G389R mutation in Tau can cause a dementi...	BeFree	11193177	Detail
0.233	dementia	The present findings indicate that the G389R mutation in Tau can cause a dementi...	BeFree	11193177	Detail
0.209	Tauopathies	Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a ...	BeFree	11193177	Detail
0.432	Pick Disease of the Brain	Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a ...	BeFree	11193177	Detail
0.432	Pick Disease of the Brain	Slow wave and rem sleep mechanisms are differently altered in hereditary pick di...	BeFree	15844669	Detail
0.209	Tauopathies	Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusio...	BeFree	10604746	Detail
0.461	frontotemporal dementia	We report a longitudinal polysomnographic and 18FDG-PET study in a 38-year-old m...	BeFree	15844669	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) AND Pick disease	ClinVar	Detail
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) AND not provided	ClinVar	Detail
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) AND Frontotemporal dementia	ClinVar	Detail
NA	DisGeNET	Detail
The present findings indicate that the G389R mutation in Tau can cause a dementia similar to that in...	DisGeNET	Detail
The present findings indicate that the G389R mutation in Tau can cause a dementia similar to that in...	DisGeNET	Detail
Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like sy...	DisGeNET	Detail
Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like sy...	DisGeNET	Detail
Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated wit...	DisGeNET	Detail
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposi...	DisGeNET	Detail
We report a longitudinal polysomnographic and 18FDG-PET study in a 38-year-old male with FTDP17 carr...	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: rs63750512 dbSNP
Genome: hg19
Position: chr17:44,101,376-44,101,376
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8610
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120720
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.656726308813784E-5

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