NC_000001.10:g.227076735G>T Detail (hg19) (PSEN2)

Information

Genome

Assembly Position
hg19 chr1:227,076,735-227,076,735
hg38 chr1:226,889,034-226,889,034 

HGVS

Type Transcript Protein
RefSeq NM_000447.2:c.772G>T NP_000438.2:p.Ala258Ser
NM_012486.2:c.772G>T NP_036618.2:p.Ala258Ser
Ensemble ENST00000677880.1:c.340G>T ENST00000677880.1:p.Ala114Ser
Summary

MGeND

Clinical significance other
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other Alzheimer's disease germline MGS000010
(TMGS000013) 		Hiroshi Mori Osaka City University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr1:227,076,735-227,076,735
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser