chr11:116707736:C>T Detail (hg19) (APOA1, APOA1-AS)

Information

Genome

Assembly Position
hg19 chr11:116,707,736-116,707,736
hg38 chr11:116,837,020-116,837,020 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000039.2:c.181G>A NP_000030.1:p.Ala61Thr
NM_001318021.1:c.181G>A NP_001304950.1:p.Ala61Thr
NM_001318018.1:c.181G>A NP_001304947.1:p.Ala61Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.043
ToMMo:0.057
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.039

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 107680 OMIM
HGNC 600 HGNC
Ensembl ENSG00000118137 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44159132 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter Hypoalphalipoproteinemia, primary, 1 germline Detail
Benign 2021-12-05 criteria provided, multiple submitters, no conflicts Familial visceral amyloidosis, Ostertag type germline Detail
Benign 2021-03-19 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-01-26 criteria provided, single submitter not provided germline Detail
Benign 2021-12-05 criteria provided, single submitter Hypoalphalipoproteinemia, primary, 2 germline Detail
Benign 2021-12-05 criteria provided, single submitter Hypoalphalipoproteinemia, primary, 2, intermediate germline Detail
Benign 2020-01-23 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Hypoalphalipoproteinemia, primary, 1 ClinVar Detail
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Familial visceral amyloidosis, Ostertag type ClinVar Detail
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND not specified ClinVar Detail
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND not provided ClinVar Detail
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Hypoalphalipoproteinemia, primary, 2 ClinVar Detail
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Hypoalphalipoproteinemia, primary, 2, intermediate ClinVar Detail
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) AND Cardiovascular phenotype 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
rs12718465 dbSNP
Genome
hg19
Position
chr11:116,707,736-116,707,736
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
90.00
Standard deviation of sample read depth (HGVD)
47.06
Number of reference allele (HGVD)
2315
Number of alternative allele (HGVD)
103
Allele Frequency (HGVD)
0.04259718775847808
Gene Symbol (HGVD)
APOA1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12718465
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0574
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
962
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
334
East Asian Heterozygous Counts (ExAC)
326
East Asian Homozygous Counts (ExAC)
4
East Asian Allele Frequency (ExAC)
0.038621646623496764
Chromosome Counts in All Race (ExAC)
120928
Allele Counts in All Race (ExAC)
345
Heterozygous Counts in All Race (ExAC)
337
Homozygous Counts in All Race (ExAC)
4
Allele Frequency in All Race (ExAC)
0.0028529372849960305
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