chr17:61560763:T>C Detail (hg19) (ACE)

Information

Genome

Assembly Position
hg19 chr17:61,560,763-61,560,763
hg38 chr17:63,483,402-63,483,402 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000789.3:c.1488-58T>C
Ensemble ENST00000428043.5:c.1488-58T>C
ENST00000290866.10:c.1488-58T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv58362711 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-10 criteria provided, single submitter not provided germline 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
0.003 Panic Attacks Here we examine the rs4311 SNP in the ACE gene, previously implicated in panic a... BeFree 25921615 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000789.4(ACE):c.1488-58T>C AND not provided ClinVar Detail
ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant genotypes increased... DisGeNET Detail
Here we examine the rs4311 SNP in the ACE gene, previously implicated in panic attacks, in the relat... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4311 dbSNP
Genome
hg19
Position
chr17:61,560,763-61,560,763
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs4311
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6621
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11097
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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