chr1:226885546:C>G Detail (hg38) (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 View the variant detail on this assembly version.
hg38	chr1:226,885,546-226,885,546

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_000447.2:c.365C>G	NP_000438.2:p.Thr122Arg
	NM_012486.2:c.365C>G	NP_036618.2:p.Thr122Arg
Ensemble	ENST00000677414.1:c.365C>G	ENST00000677414.1:p.Thr122Arg
	ENST00000677599.1:c.365C>G	ENST00000677599.1:p.Thr122Arg
	ENST00000677880.1:c.-68C>G
	ENST00000678320.1:c.365C>G	ENST00000678320.1:p.Thr122Arg
	ENST00000679088.1:c.365C>G	ENST00000679088.1:p.Thr122Arg
	ENST00000366782.6:c.365C>G	ENST00000366782.6:p.Thr122Arg
	ENST00000366783.8:c.365C>G	ENST00000366783.8:p.Thr122Arg
	ENST00000422240.6:c.365C>G	ENST00000422240.6:p.Thr122Arg
	ENST00000472139.2:c.-68C>G
	ENST00000626989.3:c.365C>G	ENST00000626989.3:p.Thr122Arg
	ENST00000676945.1:c.365C>G	ENST00000676945.1:p.Thr122Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-12-01	no assertion criteria provided	Alzheimer disease 4	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

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
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) AND Alzheimer disease 4	ClinVar	Detail
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) AND not provided	ClinVar	Detail
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: -
dbSNP: rs28936380 dbSNP
Genome: hg38
Position: chr1:226,885,546-226,885,546
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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