chr14:73659420:G>C Detail (hg19) (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	chr14:73,659,420-73,659,420
hg38	chr14:73,192,712-73,192,712 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.617G>C	NP_000012.1:p.Gly206Ala
	NM_007318.2:c.617G>C	NP_015557.2:p.Gly206Ala
Ensemble	ENST00000357710.8:c.605G>C	ENST00000357710.8:p.Gly202Ala
	ENST00000700324.1:c.605G>C	ENST00000700324.1:p.Gly202Ala
	ENST00000557511.5:c.617G>C	ENST00000557511.5:p.Gly206Ala
	ENST00000700468.1:c.605G>C	ENST00000700468.1:p.Gly202Ala
	ENST00000700268.1:c.617G>C	ENST00000700268.1:p.Gly206Ala
	ENST00000700437.1:c.368G>C	ENST00000700437.1:p.Gly123Ala
	ENST00000554131.6:c.617G>C	ENST00000554131.6:p.Gly206Ala
	ENST00000700306.1:c.617G>C	ENST00000700306.1:p.Gly206Ala
	ENST00000556951.6:c.605G>C	ENST00000556951.6:p.Gly202Ala
	ENST00000700375.1:c.617G>C	ENST00000700375.1:p.Gly206Ala
	ENST00000553599.6:c.605G>C	ENST00000553599.6:p.Gly202Ala
	ENST00000700312.1:c.368G>C	ENST00000700312.1:p.Gly123Ala
	ENST00000700267.1:c.617G>C	ENST00000700267.1:p.Gly206Ala
	ENST00000700269.1:c.617G>C	ENST00000700269.1:p.Gly206Ala
	ENST00000700322.1:c.605G>C	ENST00000700322.1:p.Gly202Ala
	ENST00000324501.10:c.617G>C	ENST00000324501.10:p.Gly206Ala
	ENST00000700317.1:c.617G>C	ENST00000700317.1:p.Gly206Ala
	ENST00000700273.1:c.605G>C	ENST00000700273.1:p.Gly202Ala
	ENST00000700321.1:c.617G>C	ENST00000700321.1:p.Gly206Ala
	ENST00000557293.6:c.617G>C	ENST00000557293.6:p.Gly206Ala
	ENST00000700313.1:c.605G>C	ENST00000700313.1:p.Gly202Ala
	ENST00000700323.1:c.617G>C	ENST00000700323.1:p.Gly206Ala
	ENST00000700320.1:c.617G>C	ENST00000700320.1:p.Gly206Ala
	ENST00000700265.1:c.605G>C	ENST00000700265.1:p.Gly202Ala
	ENST00000700271.1:c.605G>C	ENST00000700271.1:p.Gly202Ala
	ENST00000700378.1:c.617G>C	ENST00000700378.1:p.Gly206Ala
	ENST00000394164.5:c.605G>C	ENST00000394164.5:p.Gly202Ala
	ENST00000700389.1:c.605G>C	ENST00000700389.1:p.Gly202Ala
	ENST00000700469.1:c.605G>C	ENST00000700469.1:p.Gly202Ala
	ENST00000700307.1:c.617G>C	ENST00000700307.1:p.Gly206Ala

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	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
Pathogenic	2023-07-26	criteria provided, single submitter	Alzheimer disease 3	germline	Detail
Pathogenic	2023-03-14	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-17	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2024-01-17	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2024-01-17	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2024-01-17	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2022-03-04	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,dilated cardiomyopathy 1U,frontotemporal dementia	unknown	Detail
Pathogenic	2022-03-04	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,dilated cardiomyopathy 1U,frontotemporal dementia	unknown	Detail
Pathogenic	2022-03-04	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,dilated cardiomyopathy 1U,frontotemporal dementia	unknown	Detail
Pathogenic	2022-03-04	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,dilated cardiomyopathy 1U,frontotemporal dementia	unknown	Detail
Pathogenic	2022-03-04	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,dilated cardiomyopathy 1U,frontotemporal dementia	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
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
0.012	Presenile dementia	Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala muta...	BeFree	23114514	Detail
0.009	Alzheimer Disease, Early Onset	Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due...	BeFree	18797263	Detail
0.015	Familial Alzheimer Disease (FAD)	Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 Wit...	BeFree	26214276	Detail
0.046	dementia	Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala muta...	BeFree	23114514	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) AND multiple conditions	ClinVar	Detail
NA	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
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se...	DisGeNET	Detail
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican...	DisGeNET	Detail
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G20...	DisGeNET	Detail
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer...	DisGeNET	Detail
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican...	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: rs63750082 dbSNP
Genome: hg19
Position: chr14:73,659,420-73,659,420
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
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): 121410
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236553825879253E-6

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