chr19:45412031:C>T Detail (hg19) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,412,031-45,412,031
hg38 chr19:44,908,774-44,908,774 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys
NM_001302688.1:c.478C>T NP_001289617.1:p.Arg160Cys
NM_001302689.1:c.478C>T NP_001289618.1:p.Arg160Cys
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2023-06-08 no assertion provided Familial type 3 hyperlipoproteinemia germline Detail
Likely pathogenic 2022-08-22 criteria provided, single submitter Familial type 3 hyperlipoproteinemia 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_000041.3(APOE):c.[388T>C;478C>T] AND Familial type 3 hyperlipoproteinemia ClinVar Detail
NM_000041.4(APOE):c.478C>T (p.Arg160Cys) AND Familial type 3 hyperlipoproteinemia 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
rs387906567 dbSNP
Genome
hg19
Position
chr19:45,412,031-45,412,031
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser