chr17:46024197:T>C Detail (hg38) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,101,563-44,101,563 View the variant detail on this assembly version.
hg38 chr17:46,024,197-46,024,197

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.*26T>C
NM_001123066.3:c.*26T>C
NM_005910.5:c.*26T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign
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 tgv57937888 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter MAPT-Related Spectrum Disorders germline Detail
Benign 2018-08-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Cognitive changes Patients were also genotyped for three polymorphisms associated with cognitive c... BeFree 25080285 Detail
<0.001 Cognitive changes Patients were also genotyped for three polymorphisms associated with cognitive c... BeFree 25080285 Detail
<0.001 Cognitive changes Patients were also genotyped for three polymorphisms associated with cognitive c... BeFree 25080285 Detail
0.195 Neurodegenerative Disorders We also observed suggestive association between AD and the marker rs9468, which ... BeFree 22027014 Detail
0.009 Corticobasal degeneration We also observed suggestive association between AD and the marker rs9468, which ... BeFree 22027014 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001377265.1(MAPT):c.*26T>C AND MAPT-Related Spectrum Disorders ClinVar Detail
NM_001377265.1(MAPT):c.*26T>C AND not provided ClinVar Detail
Patients were also genotyped for three polymorphisms associated with cognitive change in Parkinson's... DisGeNET Detail
Patients were also genotyped for three polymorphisms associated with cognitive change in Parkinson's... DisGeNET Detail
Patients were also genotyped for three polymorphisms associated with cognitive change in Parkinson's... DisGeNET Detail
We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplo... DisGeNET Detail
We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplo... 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
rs9468 dbSNP
Genome
hg38
Position
chr17:46,024,197-46,024,197
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs9468
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8454
East Asian Allele Counts (ExAC)
7
East Asian Heterozygous Counts (ExAC)
7
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
8.280104092737166E-4
Chromosome Counts in All Race (ExAC)
118624
Allele Counts in All Race (ExAC)
17381
Heterozygous Counts in All Race (ExAC)
14057
Homozygous Counts in All Race (ExAC)
1662
Allele Frequency in All Race (ExAC)
0.1465217831130294
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