chr17:45999485:G>A Detail (hg38) (MAPT, STH)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:44,076,851-44,076,851 View the variant detail on this assembly version.
hg38	chr17:45,999,485-45,999,485

HGVS

MAPT
STH

Type	Transcript	Protein
RefSeq	NM_016835.4:c.1998+2821G>A
	NM_001123066.3:c.1800+2821G>A
	NM_005910.5:c.822+2821G>A
	NM_001203251.1:c.735+2821G>A
	NM_001203252.1:c.735+2821G>A
Ensemble	ENST00000262410.10:c.1998+2821G>A
	ENST00000334239.12:c.648+2821G>A
	ENST00000344290.10:c.1800+2821G>A
	ENST00000351559.10:c.822+2821G>A
	ENST00000415613.6:c.1827+2821G>A
	ENST00000420682.7:c.735+2821G>A
	ENST00000431008.7:c.822+2821G>A
	ENST00000446361.7:c.648+2821G>A
	ENST00000535772.6:c.735+2821G>A
	ENST00000571987.5:c.1773+2821G>A
	ENST00000574436.5:c.822+2821G>A
	ENST00000680674.1:c.648+2821G>A

Type	Transcript	Protein
RefSeq	NM_001007532.2:c.206G>A	NP_001007533.1:p.Gly69Asp
Ensemble	ENST00000537309.1:c.206G>A	ENST00000537309.1:p.Gly69Asp

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
Review star	[No Data.]
Show details

Links

MAPT
STH

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

Type	Database	ID	Link
Gene	MIM	607067	OMIM
	HGNC	18839	HGNC
	Ensembl	ENSG00000256762	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.369	frontotemporal dementia	Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t...	BeFree	23885714	Detail
0.248	Pick Disease of the Brain	Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t...	BeFree	23885714	Detail
0.461	frontotemporal dementia	Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t...	BeFree	23885714	Detail

Annotation

Annotations

Descrption	Source	Links
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	DisGeNET	Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	DisGeNET	Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	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: -
Genome: hg38
Position: chr17:45,999,485-45,999,485
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8562
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): 119594
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): 8.361623492817366E-6

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