chr14:73640282:C>T Detail (hg19) (PSEN1)

Information

Genome

Assembly Position
hg19 chr14:73,640,282-73,640,282
hg38 chr14:73,173,574-73,173,574 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000021.3:c.347C>T NP_000012.1:p.Thr116Ile
NM_007318.2:c.347C>T NP_015557.2:p.Thr116Ile
Ensemble ENST00000700389.1:c.335C>T ENST00000700389.1:p.Thr112Ile
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
not provided no assertion provided not provided not provided Detail
Pathogenic 2022-04-11 criteria provided, single submitter Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3 germline Detail
Pathogenic 2022-04-11 criteria provided, single submitter Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3 germline Detail
Pathogenic 2022-04-11 criteria provided, single submitter Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3 germline Detail
Pathogenic 2022-04-11 criteria provided, single submitter Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.389 Alzheimer's disease Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.089 Alzheimer's disease Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.003 amyotrophic lateral sclerosis Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
0.438 amyotrophic lateral sclerosis Several causative mutations were identified and confirmed by Sanger sequencing, ... BeFree 25174650 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND not provided ClinVar Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions ClinVar Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions ClinVar Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... DisGeNET Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... 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
rs63750730 dbSNP
Genome
hg19
Position
chr14:73,640,282-73,640,282
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser