chr1:227073247:C>T Detail (hg19) (PSEN2)

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

Genome

Assembly	Position
hg19	chr1:227,073,247-227,073,247
hg38	chr1:226,885,546-226,885,546 View the variant detail on this assembly version.

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_000447.2:c.365C>T	NP_000438.2:p.Thr122Met
	NM_012486.2:c.365C>T	NP_036618.2:p.Thr122Met
Ensemble	ENST00000679088.1:c.365C>T	ENST00000679088.1:p.Thr122Met
	ENST00000472139.2:c.-68C>T
	ENST00000366783.8:c.365C>T	ENST00000366783.8:p.Thr122Met
	ENST00000676945.1:c.365C>T	ENST00000676945.1:p.Thr122Met
	ENST00000677599.1:c.365C>T	ENST00000677599.1:p.Thr122Met
	ENST00000677880.1:c.-68C>T
	ENST00000677414.1:c.365C>T	ENST00000677414.1:p.Thr122Met
	ENST00000626989.3:c.365C>T	ENST00000626989.3:p.Thr122Met
	ENST00000366782.6:c.365C>T	ENST00000366782.6:p.Thr122Met
	ENST00000678320.1:c.365C>T	ENST00000678320.1:p.Thr122Met
	ENST00000422240.6:c.365C>T	ENST00000422240.6:p.Thr122Met

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

PSEN2

Type	Database	ID	Link
Gene	MIM	600759	OMIM
	HGNC	9509	HGNC
	Ensembl	ENSG00000143801	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
0.360	Alzheimer disease 4	NA	CLINVAR		Detail
0.004	Presenile dementia	Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the fami...	BeFree	15755689	Detail
0.009	dementia	Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the fami...	BeFree	15755689	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's dis...	DisGeNET	Detail
Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's dis...	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: hg19
Position: chr1:227,073,247-227,073,247
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8550
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): 117646
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): 8.500076500688507E-6

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