chr17:44039717:G>A Detail (hg19) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,039,717-44,039,717
hg38 chr17:45,962,351-45,962,351 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005910.5:c.14G>A NP_005901.2:p.Arg5His
NM_001203251.1:c.14G>A NP_001190180.1:p.Arg5His
NM_001203252.1:c.14G>A NP_001190181.1:p.Arg5His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Conflicting classifications of pathogenicity
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 tgv57935623 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Late-onset frontotemporal dementia germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-03-21 criteria provided, single submitter frontotemporal dementia germline Detail
Likely benign 2017-04-27 criteria provided, single submitter MAPT-Related Spectrum Disorders germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.461 frontotemporal dementia NA CLINVAR Detail
0.558 progressive supranuclear palsy NA CLINVAR Detail
0.461 frontotemporal dementia Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutati... UNIPROT 11921059 Detail
0.432 Pick Disease of the Brain Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutati... BeFree 11921059 Detail
0.558 progressive supranuclear palsy MAPT, the gene encoding tau, was screened for mutations in 96 progressive supran... UNIPROT 12325083 Detail
0.233 dementia Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality... BeFree 11921059 Detail
0.019 Presenile dementia Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality... BeFree 11921059 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) AND Frontotemporal dementia ClinVar Detail
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) AND MAPT-Related Spectrum Disorders ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. DisGeNET Detail
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. DisGeNET Detail
MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subject... DisGeNET Detail
Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the... DisGeNET Detail
Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the... 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
rs63750959 dbSNP
Genome
hg19
Position
chr17:44,039,717-44,039,717
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8584
East Asian Allele Counts (ExAC)
6
East Asian Heterozygous Counts (ExAC)
6
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
6.989748369058714E-4
Chromosome Counts in All Race (ExAC)
118676
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.898412484411338E-5
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