chr14:73640373:G>A Detail (hg19) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,640,373-73,640,373
hg38 chr14:73,173,665-73,173,665 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.438G>A NP_000012.1:p.Met146Ile
NM_007318.2:c.438G>A NP_015557.2:p.Met146Ile
Ensemble ENST00000700269.1:c.438G>A ENST00000700269.1:p.Met146Ile
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 1998-03-01 no assertion criteria provided 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
<0.001 Adult neuronal ceroid lipofuscinosis The pathogenic M146I mutation in PSEN1, and instrumental findings common to adul... BeFree 21212640 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) AND Alzheimer disease 3 ClinVar Detail
NA DisGeNET Detail
The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid li... 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
rs63750391 dbSNP
Genome
hg19
Position
chr14:73,640,373-73,640,373
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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