chr1:226885570:C>T Detail (hg38) (PSEN2)

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

Information

Genome

Assembly	Position
hg19	chr1:227,073,271-227,073,271 View the variant detail on this assembly version.
hg38	chr1:226,885,570-226,885,570

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_000447.2:c.389C>T	NP_000438.2:p.Ser130Leu
	NM_012486.2:c.389C>T	NP_036618.2:p.Ser130Leu
Ensemble	ENST00000366782.6:c.389C>T	ENST00000366782.6:p.Ser130Leu
	ENST00000366783.8:c.389C>T	ENST00000366783.8:p.Ser130Leu
	ENST00000422240.6:c.389C>T	ENST00000422240.6:p.Ser130Leu
	ENST00000472139.2:c.-44C>T
	ENST00000626989.3:c.389C>T	ENST00000626989.3:p.Ser130Leu
	ENST00000676945.1:c.389C>T	ENST00000676945.1:p.Ser130Leu
	ENST00000677414.1:c.389C>T	ENST00000677414.1:p.Ser130Leu
	ENST00000677599.1:c.389C>T	ENST00000677599.1:p.Ser130Leu
	ENST00000677880.1:c.-44C>T
	ENST00000678320.1:c.389C>T	ENST00000678320.1:p.Ser130Leu
	ENST00000679088.1:c.389C>T	ENST00000679088.1:p.Ser130Leu

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	Benign Likely benign
Review star
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	tgv304818645	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2017-04-28	criteria provided, single submitter	dilated cardiomyopathy 1V	germline	Detail
Benign Likely benign	2024-01-03	criteria provided, multiple submitters, no conflicts	Alzheimer disease 4	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Likely benign	2013-06-24	criteria provided, single submitter	Alzheimer disease	unknown	Detail
Benign	2020-12-30	criteria provided, single submitter	not specified	unknown	Detail
Likely benign	2020-05-15	criteria provided, single submitter	PSEN2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Alzheimer disease 4	NA	CLINVAR		Detail
0.313	Alzheimer's disease	NA	CLINVAR		Detail
0.240	Cardiomyopathy, Dilated, 1V	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND Dilated cardiomyopathy 1V	ClinVar	Detail
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND Alzheimer disease 4	ClinVar	Detail
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND not provided	ClinVar	Detail
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND Alzheimer disease	ClinVar	Detail
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND not specified	ClinVar	Detail
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND PSEN2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs63750197 dbSNP
Genome: hg38
Position: chr1:226,885,570-226,885,570
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8618
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): 77
Heterozygous Counts in All Race (ExAC): 77
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.438450089469371E-4

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