chr1:227073246:A>C Detail (hg19) (PSEN2)

Information

Genome

Assembly Position
hg19 chr1:227,073,246-227,073,246
hg38 chr1:226,885,545-226,885,545 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000447.2:c.364A>C NP_000438.2:p.Thr122Pro
NM_012486.2:c.364A>C NP_036618.2:p.Thr122Pro
Ensemble ENST00000679088.1:c.364A>C ENST00000679088.1:p.Thr122Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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
Pathogenic 2000-01-01 no assertion criteria provided Alzheimer disease 4 germline Detail
Pathogenic Likely pathogenic 2023-03-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Alzheimer disease 4 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) AND Alzheimer disease 4 ClinVar Detail
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) AND not provided 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
rs63749851 dbSNP
Genome
hg19
Position
chr1:227,073,246-227,073,246
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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