chr17:63488670:G>A Detail (hg38) (ACE)

Information

Genome

Assembly Position
hg19 chr17:61,566,031-61,566,031 View the variant detail on this assembly version.
hg38 chr17:63,488,670-63,488,670

HGVS

Type Transcript Protein
RefSeq NM_152830.2:c.606G>A NP_690043.1:p.Thr202=
NM_000789.3:c.2328G>A NP_000780.1:p.Thr776=
NM_001178057.1:c.606G>A NP_001171528.1:p.Thr202=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.647
ToMMo:0.652
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.662

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 106180 OMIM
HGNC 2707 HGNC
Ensembl ENSG00000159640 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58363331 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-07-14 criteria provided, multiple submitters, no conflicts Renal tubular dysgenesis germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-10-11 no assertion criteria provided Myocardial infarction, susceptibility to unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.153 Kidney Diseases ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant... BeFree 19108684 Detail
0.037 Metabolic syndrome X [Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British W... GAD 18057531 Detail
0.261 Cardiovascular Diseases [Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British W... GAD 18057531 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000789.4(ACE):c.2328G>A (p.Thr776=) AND not specified ClinVar Detail
NM_000789.4(ACE):c.2328G>A (p.Thr776=) AND Renal tubular dysgenesis ClinVar Detail
NM_000789.4(ACE):c.2328G>A (p.Thr776=) AND not provided ClinVar Detail
NM_000789.4(ACE):c.2328G>A (p.Thr776=) AND Myocardial infarction, susceptibility to ClinVar Detail
ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant genotypes increased... DisGeNET Detail
[Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women\'s Heart and He... DisGeNET Detail
[Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women\'s Heart and He... 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
rs4343 dbSNP
Genome
hg38
Position
chr17:63,488,670-63,488,670
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1202
Mean of sample read depth (HGVD)
65.53
Standard deviation of sample read depth (HGVD)
38.12
Number of reference allele (HGVD)
849
Number of alternative allele (HGVD)
1555
Allele Frequency (HGVD)
0.6468386023294509
Gene Symbol (HGVD)
ACE
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))
rs4343
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.652
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10928
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
5722
East Asian Heterozygous Counts (ExAC)
1946
East Asian Homozygous Counts (ExAC)
1888
East Asian Allele Frequency (ExAC)
0.6619620546043499
Chromosome Counts in All Race (ExAC)
121378
Allele Counts in All Race (ExAC)
65212
Heterozygous Counts in All Race (ExAC)
28648
Homozygous Counts in All Race (ExAC)
18282
Allele Frequency in All Race (ExAC)
0.5372637545518957
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