chr1:227083222: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	chr1:227,083,222-227,083,222
hg38	chr1:226,895,521-226,895,521 View the variant detail on this assembly version.

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_000447.2:c.1289C>T	NP_000438.2:p.Thr430Met
	NM_012486.2:c.1286C>T	NP_036618.2:p.Thr429Met
Ensemble	ENST00000366783.8:c.1289C>T	ENST00000366783.8:p.Thr430Met
	ENST00000472139.2:c.857C>T	ENST00000472139.2:p.Thr286Met
	ENST00000679088.1:c.1289C>T	ENST00000679088.1:p.Thr430Met
	ENST00000677599.1:c.1191+1396C>T
	ENST00000676945.1:c.1191+1396C>T
	ENST00000366782.6:c.1289C>T	ENST00000366782.6:p.Thr430Met
	ENST00000626989.3:c.1289C>T	ENST00000626989.3:p.Thr430Met
	ENST00000677414.1:c.1289C>T	ENST00000677414.1:p.Thr430Met
	ENST00000677880.1:c.854C>T	ENST00000677880.1:p.Thr285Met
	ENST00000422240.6:c.1286C>T	ENST00000422240.6:p.Thr429Met
	ENST00000678320.1:c.1190C>T	ENST00000678320.1:p.Thr397Met

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	Uncertain significance
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-02-05	criteria provided, single submitter	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
0.003	Alzheimer Disease, Early Onset	A novel mutation in the PSEN2 gene (T430M) associated with variable expression i...	BeFree	12925374	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) AND Alzheimer disease 4	ClinVar	Detail
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with earl...	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: rs63750666 dbSNP
Genome: hg19
Position: chr1:227,083,222-227,083,222
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8334
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): 114904
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.4811668871405693E-5

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