chr14:73192712:G>T Detail (hg38) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,659,420-73,659,420 View the variant detail on this assembly version.
hg38 chr14:73,192,712-73,192,712

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.617G>T NP_000012.1:p.Gly206Val
NM_007318.2:c.617G>T NP_015557.2:p.Gly206Val
Ensemble ENST00000324501.10:c.617G>T ENST00000324501.10:p.Gly206Val
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
Pathogenic 2017-10-01 criteria provided, single submitter not provided germline not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Alzheimer disease, familial, type 3 NA CLINVAR Detail
0.369 frontotemporal dementia Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t... BeFree 23885714 Detail
0.248 Pick Disease of the Brain Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t... BeFree 23885714 Detail
0.461 frontotemporal dementia Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t... BeFree 23885714 Detail
0.012 Presenile dementia Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala muta... BeFree 23114514 Detail
0.009 Alzheimer Disease, Early Onset Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due... BeFree 18797263 Detail
0.015 Familial Alzheimer Disease (FAD) Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 Wit... BeFree 26214276 Detail
0.046 dementia Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala muta... BeFree 23114514 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) AND not provided ClinVar Detail
NA DisGeNET Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se... DisGeNET Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se... DisGeNET Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se... DisGeNET Detail
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican... DisGeNET Detail
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G20... DisGeNET Detail
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer... DisGeNET Detail
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican... 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
rs63750082 dbSNP
Genome
hg38
Position
chr14:73,192,712-73,192,712
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser