chr14:73685885:C>T Detail (hg19) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,685,885-73,685,885
hg38 chr14:73,219,177-73,219,177 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.1292C>T NP_000012.1:p.Ala431Val
NM_007318.2:c.1292C>T NP_015557.2:p.Ala431Val
Ensemble ENST00000557511.5:c.1118C>T ENST00000557511.5:p.Ala373Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
Uncertain significance 2017-12-29 criteria provided, single submitter not provided germline not provided Detail
Likely pathogenic 2021-08-11 criteria provided, single submitter frontotemporal dementia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Alzheimer disease, familial, type 3 NA CLINVAR Detail
<0.001 clinical depression Finally, we demonstrate that the two PS-1 variants reported to be associated wit... BeFree 21373759 Detail
<0.001 Mild cognitive disorder Clinical and biomarker investigation of a patient with a novel presenilin-1 muta... BeFree 12399144 Detail
<0.001 clinical depression Finally, we demonstrate that the two PS-1 variants reported to be associated wit... BeFree 21373759 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) AND not provided ClinVar Detail
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) AND Frontotemporal dementia ClinVar Detail
NA DisGeNET Detail
Finally, we demonstrate that the two PS-1 variants reported to be associated with an increased incid... DisGeNET Detail
Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the ... DisGeNET Detail
Finally, we demonstrate that the two PS-1 variants reported to be associated with an increased incid... 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
rs63750083 dbSNP
Genome
hg19
Position
chr14:73,685,885-73,685,885
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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