chr19:44908756:C>A Detail (hg38) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,412,013-45,412,013 View the variant detail on this assembly version.
hg38 chr19:44,908,756-44,908,756

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.460C>A NP_000032.1:p.Arg154Ser
NM_001302688.1:c.460C>A NP_001289617.1:p.Arg154Ser
NM_001302689.1:c.460C>A NP_001289618.1:p.Arg154Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 107741 OMIM
HGNC 613 HGNC
Ensembl ENSG00000130203 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv405851985 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-05-17 criteria provided, single submitter Familial type 3 hyperlipoproteinemia germline Detail
protective 2019-11-25 no assertion criteria provided Alzheimer disease 3, protection against, due to APOE3-Christchurch germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.391 hyperlipoproteinemia type III NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000041.4(APOE):c.460C>A (p.Arg154Ser) AND Familial type 3 hyperlipoproteinemia ClinVar Detail
NM_000041.4:c.[388=;460C>A526=] AND Alzheimer disease 3, protection against, due to APOE3-Christchur... 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
rs121918393 dbSNP
Genome
hg38
Position
chr19:44,908,756-44,908,756
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser