chr19:44907843:C>T Detail (hg38) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,411,100-45,411,100 View the variant detail on this assembly version.
hg38 chr19:44,907,843-44,907,843

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.127C>T NP_000032.1:p.Arg43Cys
NM_001302688.1:c.127C>T NP_001289617.1:p.Arg43Cys
NM_001302689.1:c.127C>T NP_001289618.1:p.Arg43Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic 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 COSM5505582 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic criteria provided, multiple submitters, no conflicts Lipoprotein glomerulopathy germline unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
Likely pathogenic 2022-02-24 criteria provided, single submitter Alzheimer disease 3,Sea-blue histiocyte syndrome,Alzheimer disease 4,age related macular degeneration 1,Lipoprotein glomerulopathy,Alzheimer disease 2,Familial type 3 hyperlipoproteinemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.494 Lipoprotein glomerulopathy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND Lipoprotein glomerulopathy ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions 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
rs121918399 dbSNP
Genome
hg38
Position
chr19:44,907,843-44,907,843
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8548
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118040
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.471704506946798E-6
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