chr14:73192721:G>T 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	chr14:73,659,429-73,659,429 View the variant detail on this assembly version.
hg38	chr14:73,192,721-73,192,721

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.626G>T	NP_000012.1:p.Gly209Val
	NM_007318.2:c.626G>T	NP_015557.2:p.Gly209Val
Ensemble	ENST00000324501.10:c.626G>T	ENST00000324501.10:p.Gly209Val
	ENST00000357710.8:c.614G>T	ENST00000357710.8:p.Gly205Val
	ENST00000394164.5:c.614G>T	ENST00000394164.5:p.Gly205Val
	ENST00000553599.6:c.614G>T	ENST00000553599.6:p.Gly205Val
	ENST00000554131.6:c.626G>T	ENST00000554131.6:p.Gly209Val
	ENST00000556951.6:c.614G>T	ENST00000556951.6:p.Gly205Val
	ENST00000557293.6:c.626G>T	ENST00000557293.6:p.Gly209Val
	ENST00000557511.5:c.626G>T	ENST00000557511.5:p.Gly209Val
	ENST00000700265.1:c.614G>T	ENST00000700265.1:p.Gly205Val
	ENST00000700267.1:c.626G>T	ENST00000700267.1:p.Gly209Val
	ENST00000700268.1:c.626G>T	ENST00000700268.1:p.Gly209Val
	ENST00000700269.1:c.626G>T	ENST00000700269.1:p.Gly209Val
	ENST00000700271.1:c.614G>T	ENST00000700271.1:p.Gly205Val
	ENST00000700273.1:c.614G>T	ENST00000700273.1:p.Gly205Val
	ENST00000700306.1:c.626G>T	ENST00000700306.1:p.Gly209Val
	ENST00000700307.1:c.626G>T	ENST00000700307.1:p.Gly209Val
	ENST00000700312.1:c.377G>T	ENST00000700312.1:p.Gly126Val
	ENST00000700313.1:c.614G>T	ENST00000700313.1:p.Gly205Val
	ENST00000700317.1:c.626G>T	ENST00000700317.1:p.Gly209Val
	ENST00000700320.1:c.626G>T	ENST00000700320.1:p.Gly209Val
	ENST00000700321.1:c.626G>T	ENST00000700321.1:p.Gly209Val
	ENST00000700322.1:c.614G>T	ENST00000700322.1:p.Gly205Val
	ENST00000700323.1:c.626G>T	ENST00000700323.1:p.Gly209Val
	ENST00000700324.1:c.614G>T	ENST00000700324.1:p.Gly205Val
	ENST00000700375.1:c.626G>T	ENST00000700375.1:p.Gly209Val
	ENST00000700378.1:c.626G>T	ENST00000700378.1:p.Gly209Val
	ENST00000700389.1:c.614G>T	ENST00000700389.1:p.Gly205Val
	ENST00000700437.1:c.377G>T	ENST00000700437.1:p.Gly126Val
	ENST00000700468.1:c.614G>T	ENST00000700468.1:p.Gly205Val
	ENST00000700469.1:c.614G>T	ENST00000700469.1:p.Gly205Val

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

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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	Neurofibrillary degeneration (morphologic abnormality)	Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o...	BeFree	10468510	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) AND multiple conditions	ClinVar	Detail
Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not others, were also ass...	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: rs63750053 dbSNP
Genome: hg38
Position: chr14:73,192,721-73,192,721
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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