chr14:73186860:A>G Detail (hg38) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,653,568-73,653,568 View the variant detail on this assembly version.
hg38 chr14:73,186,860-73,186,860

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.488A>G NP_000012.1:p.His163Arg
NM_007318.2:c.488A>G NP_015557.2:p.His163Arg
Ensemble ENST00000324501.10:c.488A>G ENST00000324501.10:p.His163Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
Pathogenic Early onset Alzheimer's disease germline MGS000075
(TMGS000147)
Takeshi Ikeuchi
Niigata University
JFADdb
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-06-29 no assertion criteria provided Alzheimer disease 3 germline Detail
Pathogenic 2022-11-15 criteria provided, single submitter not provided not provided unknown Detail
Pathogenic 2021-11-29 criteria provided, single submitter Pick disease,Acne inversa, familial, 3,Alzheimer disease 3,frontotemporal dementia germline Detail
Pathogenic 2021-11-29 criteria provided, single submitter Pick disease,Acne inversa, familial, 3,Alzheimer disease 3,frontotemporal dementia germline Detail
Pathogenic 2021-11-29 criteria provided, single submitter Pick disease,Acne inversa, familial, 3,Alzheimer disease 3,frontotemporal dementia germline Detail
Pathogenic 2021-11-29 criteria provided, single submitter Pick disease,Acne inversa, familial, 3,Alzheimer disease 3,frontotemporal dementia germline Detail
Pathogenic 2021-11-12 criteria provided, single submitter Acne inversa, familial, 3,Pick disease,frontotemporal dementia,dilated cardiomyopathy 1U,Alzheimer disease 3 unknown Detail
Pathogenic 2021-11-12 criteria provided, single submitter Acne inversa, familial, 3,Pick disease,frontotemporal dementia,dilated cardiomyopathy 1U,Alzheimer disease 3 unknown Detail
Pathogenic 2021-11-12 criteria provided, single submitter Acne inversa, familial, 3,Pick disease,frontotemporal dementia,dilated cardiomyopathy 1U,Alzheimer disease 3 unknown Detail
Pathogenic 2021-11-12 criteria provided, single submitter Acne inversa, familial, 3,Pick disease,frontotemporal dementia,dilated cardiomyopathy 1U,Alzheimer disease 3 unknown Detail
Pathogenic 2021-11-12 criteria provided, single submitter Acne inversa, familial, 3,Pick disease,frontotemporal dementia,dilated cardiomyopathy 1U,Alzheimer disease 3 unknown Detail
Pathogenic 2023-08-30 criteria provided, single submitter PSEN1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Alzheimer disease, familial, type 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND Alzheimer disease 3 ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND not provided ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) AND PSEN1-related disorder 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
rs63750590 dbSNP
Genome
hg38
Position
chr14:73,186,860-73,186,860
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser