chr14:73186877:T>C Detail (hg38) (PSEN1)

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

Genome

Assembly	Position
hg19	chr14:73,653,585-73,653,585 View the variant detail on this assembly version.
hg38	chr14:73,186,877-73,186,877

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.505T>C	NP_000012.1:p.Ser169Pro
	NM_007318.2:c.505T>C	NP_015557.2:p.Ser169Pro
Ensemble	ENST00000324501.10:c.505T>C	ENST00000324501.10:p.Ser169Pro
	ENST00000357710.8:c.493T>C	ENST00000357710.8:p.Ser165Pro
	ENST00000394164.5:c.493T>C	ENST00000394164.5:p.Ser165Pro
	ENST00000553599.6:c.493T>C	ENST00000553599.6:p.Ser165Pro
	ENST00000554131.6:c.505T>C	ENST00000554131.6:p.Ser169Pro
	ENST00000556951.6:c.493T>C	ENST00000556951.6:p.Ser165Pro
	ENST00000557293.6:c.505T>C	ENST00000557293.6:p.Ser169Pro
	ENST00000557511.5:c.505T>C	ENST00000557511.5:p.Ser169Pro
	ENST00000700265.1:c.493T>C	ENST00000700265.1:p.Ser165Pro
	ENST00000700267.1:c.505T>C	ENST00000700267.1:p.Ser169Pro
	ENST00000700268.1:c.505T>C	ENST00000700268.1:p.Ser169Pro
	ENST00000700269.1:c.505T>C	ENST00000700269.1:p.Ser169Pro
	ENST00000700271.1:c.493T>C	ENST00000700271.1:p.Ser165Pro
	ENST00000700273.1:c.493T>C	ENST00000700273.1:p.Ser165Pro
	ENST00000700306.1:c.505T>C	ENST00000700306.1:p.Ser169Pro
	ENST00000700307.1:c.505T>C	ENST00000700307.1:p.Ser169Pro
	ENST00000700312.1:c.256T>C	ENST00000700312.1:p.Ser86Pro
	ENST00000700313.1:c.493T>C	ENST00000700313.1:p.Ser165Pro
	ENST00000700317.1:c.505T>C	ENST00000700317.1:p.Ser169Pro
	ENST00000700320.1:c.505T>C	ENST00000700320.1:p.Ser169Pro
	ENST00000700321.1:c.505T>C	ENST00000700321.1:p.Ser169Pro
	ENST00000700322.1:c.493T>C	ENST00000700322.1:p.Ser165Pro
	ENST00000700323.1:c.505T>C	ENST00000700323.1:p.Ser169Pro
	ENST00000700324.1:c.493T>C	ENST00000700324.1:p.Ser165Pro
	ENST00000700375.1:c.505T>C	ENST00000700375.1:p.Ser169Pro
	ENST00000700378.1:c.505T>C	ENST00000700378.1:p.Ser169Pro
	ENST00000700389.1:c.493T>C	ENST00000700389.1:p.Ser165Pro
	ENST00000700437.1:c.256T>C	ENST00000700437.1:p.Ser86Pro
	ENST00000700468.1:c.493T>C	ENST00000700468.1:p.Ser165Pro
	ENST00000700469.1:c.493T>C	ENST00000700469.1:p.Ser165Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

PSEN1

Type	Database	ID	Link
Gene	MIM	104311	OMIM
	HGNC	9508	HGNC
	Ensembl	ENSG00000080815	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
Likely pathogenic	2017-04-14	criteria provided, single submitter	not provided	germline not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.369	frontotemporal dementia	Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t...	BeFree	23885714	Detail
0.248	Pick Disease of the Brain	Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t...	BeFree	23885714	Detail
0.461	frontotemporal dementia	Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t...	BeFree	23885714	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) AND not provided	ClinVar	Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	DisGeNET	Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	DisGeNET	Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	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: rs63750418 dbSNP
Genome: hg38
Position: chr14:73,186,877-73,186,877
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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