chr14:73217137:C>G Detail (hg38) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,683,845-73,683,845 View the variant detail on this assembly version.
hg38 chr14:73,217,137-73,217,137

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.1141C>G NP_000012.1:p.Leu381Val
NM_007318.2:c.1141C>G NP_015557.2:p.Leu381Val
Ensemble ENST00000324501.10:c.1141C>G ENST00000324501.10:p.Leu381Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Early onset Alzheimer's disease germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Pathogenic 2013-11-19 criteria provided, single submitter Alzheimer disease 3 de novo 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.1141C>G (p.Leu381Val) AND not provided ClinVar Detail
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) AND Alzheimer disease 3 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
rs63750687 dbSNP
Genome
hg38
Position
chr14:73,217,137-73,217,137
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser