chr17:46024061:C>T Detail (hg38) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,101,427-44,101,427 View the variant detail on this assembly version.
hg38 chr17:46,024,061-46,024,061

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.2392C>T NP_058519.3:p.Arg798Trp
NM_001123066.3:c.2101C>T NP_001116538.2:p.Arg701Trp
NM_005910.5:c.1216C>T NP_005901.2:p.Arg406Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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
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 tgv230031790 TogoVar
COSMIC COSM980228 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Early onset Alzheimer's disease germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
Pathogenic Frontotemporal Dementia germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-12 criteria provided, multiple submitters, no conflicts frontotemporal dementia germline Detail
Pathogenic 2021-12-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2022-03-15 criteria provided, single submitter frontotemporal dementia,Parkinson disease, late-onset,Supranuclear palsy, progressive, 1,Pick disease,Progressive supranuclear palsy-parkinsonism syndrome unknown Detail
Pathogenic 2022-03-15 criteria provided, single submitter frontotemporal dementia,Parkinson disease, late-onset,Supranuclear palsy, progressive, 1,Pick disease,Progressive supranuclear palsy-parkinsonism syndrome unknown Detail
Pathogenic 2022-03-15 criteria provided, single submitter frontotemporal dementia,Parkinson disease, late-onset,Supranuclear palsy, progressive, 1,Pick disease,Progressive supranuclear palsy-parkinsonism syndrome unknown Detail
Pathogenic 2022-03-15 criteria provided, single submitter frontotemporal dementia,Parkinson disease, late-onset,Supranuclear palsy, progressive, 1,Pick disease,Progressive supranuclear palsy-parkinsonism syndrome unknown Detail
Pathogenic 2022-03-15 criteria provided, single submitter frontotemporal dementia,Parkinson disease, late-onset,Supranuclear palsy, progressive, 1,Pick disease,Progressive supranuclear palsy-parkinsonism syndrome unknown 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
0.432 Pick Disease of the Brain Mutant R406W human tau was originally identified in frontotemporal dementia and ... BeFree 16182262 Detail
0.275 Alzheimer's disease Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a M... BeFree 18284428 Detail
0.461 frontotemporal dementia The R406W tau mutation found in frontotemporal dementia and parkinsonism linked ... BeFree 12368474 Detail
0.019 Presenile dementia The Arg406Trp (R406W) missense mutation in the microtubule-associated protein-ta... BeFree 23727082 Detail
0.233 dementia We report clinical, molecular, neuroimaging and neuropathological features of a ... BeFree 18284428 Detail
0.209 Tauopathies Mutant R406W human tau was originally identified in frontotemporal dementia and ... BeFree 16182262 Detail
0.209 Tauopathies To examine the effects of tau gene mutations and the role of tau abnormalities i... BeFree 15140937 Detail
0.432 Pick Disease of the Brain The R406W tau mutation found in frontotemporal dementia and parkinsonism linked ... BeFree 12368474 Detail
0.461 frontotemporal dementia Conditional expression systems for 4-repeat wild-type (WT) tau or the correspond... BeFree 12414518 Detail
0.209 Tauopathies The R406W tau mutation found in frontotemporal dementia and parkinsonism linked ... BeFree 12368474 Detail
0.275 Alzheimer's disease Among different MAPT mutations, the R406W mutation has been reported with a phen... BeFree 26086902 Detail
0.461 frontotemporal dementia We report the autopsy results of a patient with familial dementia who was diagno... BeFree 25377499 Detail
0.019 Presenile dementia We report clinical, molecular, neuroimaging and neuropathological features of a ... BeFree 18284428 Detail
0.461 frontotemporal dementia Mutant R406W human tau was originally identified in frontotemporal dementia and ... BeFree 16182262 Detail
0.233 dementia The Arg406Trp (R406W) missense mutation in the microtubule-associated protein-ta... BeFree 23727082 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND Frontotemporal dementia ClinVar Detail
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND not provided ClinVar Detail
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) AND multiple conditions 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
Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked ... DisGeNET Detail
Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. DisGeNET Detail
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FT... DisGeNET Detail
The Arg406Trp (R406W) missense mutation in the microtubule-associated protein-tau gene (MAPT) is a k... DisGeNET Detail
We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with a... DisGeNET Detail
Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked ... DisGeNET Detail
To examine the effects of tau gene mutations and the role of tau abnormalities in neurodegenerative ... DisGeNET Detail
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FT... DisGeNET Detail
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M an... DisGeNET Detail
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FT... DisGeNET Detail
Among different MAPT mutations, the R406W mutation has been reported with a phenotype resembling Alz... DisGeNET Detail
We report the autopsy results of a patient with familial dementia who was diagnosed as having fronto... DisGeNET Detail
We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with a... DisGeNET Detail
Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked ... DisGeNET Detail
The Arg406Trp (R406W) missense mutation in the microtubule-associated protein-tau gene (MAPT) is a k... 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
rs63750424 dbSNP
Genome
hg38
Position
chr17:46,024,061-46,024,061
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8622
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)
120942
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.268426187759421E-6
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