chr14:73685893:GC>TG 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	chr14:73,685,893-73,685,894
hg38	chr14:73,219,185-73,219,186 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.1300_1301delinsTG	NP_000012.1:p.Ala434Cys
	NM_007318.2:c.1300_1301delinsTG	NP_015557.2:p.Ala434Cys
Ensemble	ENST00000556951.6:c.1288_1289delinsTG	ENST00000556951.6:p.Ala430Cys
	ENST00000700375.1:c.1300_1301delinsTG	ENST00000700375.1:p.Ala434Cys
	ENST00000553599.6:c.1288_1289delinsTG	ENST00000553599.6:p.Ala430Cys
	ENST00000700312.1:c.1051_1052delinsTG	ENST00000700312.1:p.Ala351Cys
	ENST00000700267.1:c.1300_1301delinsTG	ENST00000700267.1:p.Ala434Cys
	ENST00000700269.1:c.1300_1301delinsTG	ENST00000700269.1:p.Ala434Cys
	ENST00000357710.8:c.1288_1289delinsTG	ENST00000357710.8:p.Ala430Cys
	ENST00000700324.1:c.1288_1289delinsTG	ENST00000700324.1:p.Ala430Cys
	ENST00000557511.5:c.1126_1127delinsTG	ENST00000557511.5:p.Ala376Cys
	ENST00000700468.1:c.1189_1190delinsTG	ENST00000700468.1:p.Ala397Cys
	ENST00000700268.1:c.1300_1301delinsTG	ENST00000700268.1:p.Ala434Cys
	ENST00000700437.1:c.1051_1052delinsTG	ENST00000700437.1:p.Ala351Cys
	ENST00000554131.6:c.1300_1301delinsTG	ENST00000554131.6:p.Ala434Cys
	ENST00000700306.1:c.1300_1301delinsTG	ENST00000700306.1:p.Ala434Cys
	ENST00000557293.6:c.1180_1181delinsTG	ENST00000557293.6:p.Ala394Cys
	ENST00000700313.1:c.1288_1289delinsTG	ENST00000700313.1:p.Ala430Cys
	ENST00000700323.1:c.1300_1301delinsTG	ENST00000700323.1:p.Ala434Cys
	ENST00000700320.1:c.1327_1328delinsTG	ENST00000700320.1:p.Ala443Cys
	ENST00000700271.1:c.1114_1115delinsTG	ENST00000700271.1:p.Ala372Cys
	ENST00000700378.1:c.1300_1301delinsTG	ENST00000700378.1:p.Ala434Cys
	ENST00000394164.5:c.1288_1289delinsTG	ENST00000394164.5:p.Ala430Cys
	ENST00000700265.1:c.1288_1289delinsTG	ENST00000700265.1:p.Ala430Cys
	ENST00000700389.1:c.1288_1289delinsTG	ENST00000700389.1:p.Ala430Cys
	ENST00000700469.1:c.1288_1289delinsTG	ENST00000700469.1:p.Ala430Cys
	ENST00000700307.1:c.1201_1202delinsTG	ENST00000700307.1:p.Ala401Cys
	ENST00000700322.1:c.1288_1289delinsTG	ENST00000700322.1:p.Ala430Cys
	ENST00000324501.10:c.1300_1301delinsTG	ENST00000324501.10:p.Ala434Cys
	ENST00000700317.1:c.1300_1301delinsTG	ENST00000700317.1:p.Ala434Cys
	ENST00000700321.1:c.1300_1301delinsTG	ENST00000700321.1:p.Ala434Cys
	ENST00000700273.1:c.1288_1289delinsTG	ENST00000700273.1:p.Ala430Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2000-10-01	no assertion criteria provided	Alzheimer disease 3	germline	Detail
Pathogenic	2019-03-27	criteria provided, single submitter	not provided	germline not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) AND not provided	ClinVar	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: rs281875357 dbSNP
Genome: hg19
Position: chr14:73,685,893-73,685,894
Variant Type: snv
Reference Allele: GC
Alternative Allele: TG

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