chr19:45411858:C>G Detail (hg19) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,411,858-45,411,858
hg38 chr19:44,908,601-44,908,601 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg
NM_001302688.1:c.305C>G NP_001289617.1:p.Pro102Arg
NM_001302689.1:c.305C>G NP_001289618.1:p.Pro102Arg
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 no classification for the single variant
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
association 2019-11-22 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000041.3(APOE):c.[305C>G;388T>C] AND APOE5 VARIANT ClinVar 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
rs11083750 dbSNP
Genome
hg19
Position
chr19:45,411,858-45,411,858
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
6906
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)
97892
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)
1.0215339353573326E-5
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