chr1:227083249:A>C Detail (hg19) (PSEN2)

Information

Genome

Assembly Position
hg19 chr1:227,083,249-227,083,249
hg38 chr1:226,895,548-226,895,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000447.2:c.1316A>C NP_000438.2:p.Asp439Ala
NM_012486.2:c.1313A>C NP_036618.2:p.Asp438Ala
Ensemble ENST00000366783.8:c.1316A>C ENST00000366783.8:p.Asp439Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600759 OMIM
HGNC 9509 HGNC
Ensembl ENSG00000143801 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
Uncertain significance 2023-04-15 criteria provided, single submitter Alzheimer disease 4 germline Detail
Uncertain significance 2020-05-26 criteria provided, single submitter not provided germline not provided Detail
Uncertain significance 2013-06-24 criteria provided, single submitter Alzheimer disease unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Alzheimer disease 4 NA CLINVAR Detail
0.313 Alzheimer's disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) AND Alzheimer disease 4 ClinVar Detail
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) AND not provided ClinVar Detail
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) AND Alzheimer disease ClinVar Detail
NA DisGeNET 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
rs63750110 dbSNP
Genome
hg19
Position
chr1:227,083,249-227,083,249
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
7714
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
106262
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.764280740057593E-5
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