chr14:73186881:C>T Detail (hg38) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,653,589-73,653,589 View the variant detail on this assembly version.
hg38 chr14:73,186,881-73,186,881

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.509C>T NP_000012.1:p.Ser170Phe
NM_007318.2:c.509C>T NP_015557.2:p.Ser170Phe
Ensemble ENST00000324501.10:c.509C>T ENST00000324501.10:p.Ser170Phe
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
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 2007-05-01 no assertion criteria provided Alzheimer disease 3 germline unknown Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Alzheimer disease, familial, type 3 NA CLINVAR Detail
0.389 Alzheimer's disease Association of a presenilin 1 S170F mutation with a novel Alzheimer disease mole... BeFree 17502474 Detail
0.389 Alzheimer's disease Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies i... BeFree 16344340 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) AND Alzheimer disease 3 ClinVar Detail
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) AND not provided ClinVar Detail
NA DisGeNET Detail
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. DisGeNET Detail
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade o... 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
rs63750577 dbSNP
Genome
hg38
Position
chr14:73,186,881-73,186,881
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser