chr17:46010324:T>G Detail (hg38) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,087,690-44,087,690 View the variant detail on this assembly version.
hg38 chr17:46,010,324-46,010,324

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.2013T>G NP_058519.3:p.Asn671Lys
NM_005910.5:c.837T>G NP_005901.2:p.Asn279Lys
NM_001123066.3:c.1801-3919T>G
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic Frontotemporal lobar degeneration germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
Pathogenic Progressive supranuclear palsy germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-27 criteria provided, single submitter frontotemporal dementia germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2018-10-31 criteria provided, single submitter frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Pick disease,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Pick disease,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Pick disease,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Pick disease,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Pick disease,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.017 Frontotemporal Lobar Degeneration Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice s... BeFree 16552612 Detail
0.043 Neurofibrillary degeneration (morphologic abnormality) Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice s... BeFree 16552612 Detail
0.432 Pick Disease of the Brain We present a case of frontotemporal dementia and parkinsonism linked to chromoso... BeFree 17319286 Detail
0.461 frontotemporal dementia Here we show that Lrrk2 is closely associated with the tau-positive inclusions i... BeFree 17639429 Detail
0.432 Pick Disease of the Brain Here we show that Lrrk2 is closely associated with the tau-positive inclusions i... BeFree 17639429 Detail
0.432 Pick Disease of the Brain The objective of this clinical-pathologic study was to identify biomarkers for a... BeFree 17196872 Detail
0.461 frontotemporal dementia Physiologic assessment of autonomic dysfunction in pallidopontonigral degenerati... BeFree 12492138 Detail
0.170 Parkinsonian Disorders Two brothers with frontotemporal dementia and parkinsonism with an N279K mutatio... BeFree 10802785 Detail
0.170 Parkinsonian Disorders Recently, we have generated transgenic mice (designated as SJLB) carrying human ... BeFree 19898260 Detail
0.432 Pick Disease of the Brain Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAP... BeFree 21681797 Detail
0.004 Movement Disorders We used electrophysiological methods to study the hyperkinetic movement disorder... BeFree 12573870 Detail
0.209 Tauopathies A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy wi... BeFree 10412802 Detail
0.170 Parkinsonian Disorders Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAP... BeFree 21681797 Detail
0.432 Pick Disease of the Brain Autonomic function was investigated in five affected and five at-risk members of... BeFree 12492138 Detail
0.019 Presenile dementia A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy wi... BeFree 10412802 Detail
0.001 Pallidopontonigral degeneration Physiologic assessment of autonomic dysfunction in pallidopontonigral degenerati... BeFree 12492138 Detail
0.003 frontotemporal dementia Here we show that Lrrk2 is closely associated with the tau-positive inclusions i... BeFree 17639429 Detail
0.233 dementia A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy wi... BeFree 10412802 Detail
0.170 Parkinsonian Disorders A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTD... BeFree 22169201 Detail
0.233 dementia An N279K missense mutation in exon 10 of the tau gene reported in an American fa... BeFree 12056930 Detail
0.461 frontotemporal dementia Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAP... BeFree 21681797 Detail
0.019 Presenile dementia An N279K missense mutation in exon 10 of the tau gene reported in an American fa... BeFree 12056930 Detail
0.461 frontotemporal dementia Clinical features and disease haplotypes of individuals with the N279K tau gene ... BeFree 12056930 Detail
<0.001 Supranuclear paralysis An N279K missense mutation in exon 10 of the tau gene reported in an American fa... BeFree 12056930 Detail
0.005 Impaired cognition We previously established a transgenic mouse with human N279K mutant tau as a mo... BeFree 22169201 Detail
0.001 Pallidopontonigral degeneration The objective of this clinical-pathologic study was to identify biomarkers for a... BeFree 17196872 Detail
<0.001 Supranuclear paralysis A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy wi... BeFree 10412802 Detail
0.001 Pallidopontonigral degeneration Clinical features and disease haplotypes of individuals with the N279K tau gene ... BeFree 12056930 Detail
0.461 frontotemporal dementia The objective of this clinical-pathologic study was to identify biomarkers for a... BeFree 17196872 Detail
<0.001 Pick Disease of the Brain Here we show that Lrrk2 is closely associated with the tau-positive inclusions i... BeFree 17639429 Detail
0.461 frontotemporal dementia We present a case of frontotemporal dementia and parkinsonism linked to chromoso... BeFree 17319286 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND Frontotemporal dementia ClinVar Detail
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND not provided ClinVar Detail
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND multiple conditions ClinVar 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
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed... DisGeNET Detail
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed... DisGeNET Detail
We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harb... DisGeNET Detail
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a... DisGeNET Detail
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a... DisGeNET Detail
The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral ... DisGeNET Detail
Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutati... DisGeNET Detail
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. DisGeNET Detail
Recently, we have generated transgenic mice (designated as SJLB) carrying human N279K mutant tau, on... DisGeNET Detail
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a fa... DisGeNET Detail
We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto... DisGeNET Detail
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supr... DisGeNET Detail
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a fa... DisGeNET Detail
Autonomic function was investigated in five affected and five at-risk members of a single kinship of... DisGeNET Detail
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supr... DisGeNET Detail
Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutati... DisGeNET Detail
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a... DisGeNET Detail
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supr... DisGeNET Detail
A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predo... DisGeNET Detail
An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopon... DisGeNET Detail
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a fa... DisGeNET Detail
An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopon... DisGeNET Detail
Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparis... DisGeNET Detail
An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopon... DisGeNET Detail
We previously established a transgenic mouse with human N279K mutant tau as a model for FTDP-17, whi... DisGeNET Detail
The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral ... DisGeNET Detail
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supr... DisGeNET Detail
Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparis... DisGeNET Detail
The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral ... DisGeNET Detail
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a... DisGeNET Detail
We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harb... 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
rs63750756 dbSNP
Genome
hg38
Position
chr17:46,010,324-46,010,324
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser