chr19:45412043:A>C Detail (hg19) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,412,043-45,412,043
hg38 chr19:44,908,786-44,908,786 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.490A>C NP_000032.1:p.Lys164Gln
NM_001302688.1:c.490A>C NP_001289617.1:p.Lys164Gln
NM_001302689.1:c.490A>C NP_001289618.1:p.Lys164Gln
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 107741 OMIM
HGNC 613 HGNC
Ensembl ENSG00000130203 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 1990-01-01 no assertion criteria provided Hyperlipoproteinemia, type III, due to APOE2 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.490A>C (p.Lys164Gln) AND Hyperlipoproteinemia, type III, due to APOE2 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
rs121918394 dbSNP
Genome
hg19
Position
chr19:45,412,043-45,412,043
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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