chr14:73173642:A>G Detail (hg38) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,640,350-73,640,350 View the variant detail on this assembly version.
hg38 chr14:73,173,642-73,173,642

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.415A>G NP_000012.1:p.Met139Val
NM_007318.2:c.415A>G NP_015557.2:p.Met139Val
Ensemble ENST00000324501.10:c.415A>G ENST00000324501.10:p.Met139Val
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 2022-07-29 criteria provided, single submitter Alzheimer disease 3 unknown germline Detail
Pathogenic 2021-04-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2023-12-04 criteria provided, single submitter frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3 germline Detail
Pathogenic 2023-12-04 criteria provided, single submitter frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3 germline Detail
Pathogenic 2023-12-04 criteria provided, single submitter frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3 germline Detail
Pathogenic 2023-12-04 criteria provided, single submitter frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Alzheimer disease, familial, type 3 NA CLINVAR Detail
0.002 Neurofibrillary degeneration (morphologic abnormality) Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o... BeFree 10468510 Detail
0.046 dementia Herein we report the case of a German EOAD patient with a family history of deme... BeFree 9728730 Detail
0.012 Presenile dementia Herein we report the case of a German EOAD patient with a family history of deme... BeFree 9728730 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND Alzheimer disease 3 ClinVar Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND not provided ClinVar Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not others, were also ass... DisGeNET Detail
Herein we report the case of a German EOAD patient with a family history of dementia and a missense ... DisGeNET Detail
Herein we report the case of a German EOAD patient with a family history of dementia and a missense ... 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
rs63751037 dbSNP
Genome
hg38
Position
chr14:73,173,642-73,173,642
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser