chr21:27264108:C>T Detail (hg19) (APP)

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

Genome

Assembly	Position
hg19	chr21:27,264,108-27,264,108
hg38	chr21:25,891,796-25,891,796 View the variant detail on this assembly version.

HGVS

APP

Type	Transcript	Protein
RefSeq	NM_000484.3:c.2137G>A	NP_000475.1:p.Ala713Thr
	NM_001204303.1:c.1912G>A	NP_001191232.1:p.Ala638Thr
	NM_201414.2:c.1912G>A	NP_958817.1:p.Ala638Thr
	NM_001136129.2:c.1744G>A	NP_001129601.1:p.Ala582Thr
	NM_001204302.1:c.2080G>A	NP_001191231.1:p.Ala694Thr
	NM_201413.2:c.2080G>A	NP_958816.1:p.Ala694Thr
	NM_001204301.1:c.2083G>A	NP_001191230.1:p.Ala695Thr
	NM_001136131.2:c.1807G>A	NP_001129603.1:p.Ala603Thr
	NM_001136130.2:c.1969G>A	NP_001129602.1:p.Ala657Thr
	NM_001136016.3:c.2065G>A	NP_001129488.1:p.Ala689Thr
Ensemble	ENST00000346798.8:c.2137G>A	ENST00000346798.8:p.Ala713Thr
	ENST00000348990.9:c.1912G>A	ENST00000348990.9:p.Ala638Thr
	ENST00000354192.7:c.1744G>A	ENST00000354192.7:p.Ala582Thr
	ENST00000357903.7:c.2080G>A	ENST00000357903.7:p.Ala694Thr
	ENST00000358918.7:c.2083G>A	ENST00000358918.7:p.Ala695Thr
	ENST00000359726.7:c.1807G>A	ENST00000359726.7:p.Ala603Thr
	ENST00000439274.6:c.1969G>A	ENST00000439274.6:p.Ala657Thr
	ENST00000440126.7:c.2065G>A	ENST00000440126.7:p.Ala689Thr

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	Likely pathogenic
Review star
Show details

Links

APP

Type	Database	ID	Link
Gene	MIM	104760	OMIM
	HGNC	620	HGNC
	Ensembl	ENSG00000142192	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2004-09-14	no assertion criteria provided	Alzheimer disease type 1	germline	Detail
not provided		no assertion provided	not provided	germline not provided	Detail
Likely pathogenic	2023-12-01	criteria provided, multiple submitters, no conflicts	Alzheimer disease	germline	Detail
Likely pathogenic	2019-01-24	criteria provided, single submitter	Primary degenerative dementia of the Alzheimer type, presenile onset	germline	Detail
Likely pathogenic	2022-02-02	criteria provided, single submitter	Cerebral amyloid angiopathy, APP-related	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	ALZHEIMER DISEASE, FAMILIAL, 1	NA	CLINVAR		Detail
0.159	Alzheimer's disease	Our findings, also supported by the β-amyloid plasma assay, confirm (1) the path...	BeFree	25948718	Detail
0.440	Alzheimer's disease	Our findings, also supported by the β-amyloid plasma assay, confirm (1) the path...	BeFree	25948718	Detail
0.143	cerebral amyloid angiopathy	This indicates that the A713T mutation of the APP gene, lying at the gamma-secre...	BeFree	15365148	Detail
0.005	Familial Alzheimer Disease (FAD)	Familial Alzheimer disease associated with A713T mutation in APP.	BeFree	15488330	Detail
0.248	Alzheimer's disease	Our findings, also supported by the β-amyloid plasma assay, confirm (1) the path...	BeFree	25948718	Detail
0.601	Alzheimer's disease	Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer dis...	BeFree	25948718	Detail
0.601	Alzheimer's disease	A family with Alzheimer disease and strokes associated with A713T mutation of th...	BeFree	15365148	Detail
0.001	Cerebrovascular accident	A family with Alzheimer disease and strokes associated with A713T mutation of th...	BeFree	15365148	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND Alzheimer disease type 1	ClinVar	Detail
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND not provided	ClinVar	Detail
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND Alzheimer disease	ClinVar	Detail
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND Primary degenerative dementia of the Alzheimer type, pr...	ClinVar	Detail
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND Cerebral amyloid angiopathy, APP-related	ClinVar	Detail
NA	DisGeNET	Detail
Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the A...	DisGeNET	Detail
Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the A...	DisGeNET	Detail
This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, ...	DisGeNET	Detail
Familial Alzheimer disease associated with A713T mutation in APP.	DisGeNET	Detail
Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the A...	DisGeNET	Detail
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.	DisGeNET	Detail
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.	DisGeNET	Detail
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.	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: rs63750066 dbSNP
Genome: hg19
Position: chr21:27,264,108-27,264,108
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8648
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): 121360
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): 5.767963085036256E-5

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