chr19:3595796:A>G Detail (hg38) (TBXA2R)

Information

Genome

Assembly Position
hg19 chr19:3,595,794-3,595,794 View the variant detail on this assembly version.
hg38 chr19:3,595,796-3,595,796

HGVS

Type Transcript Protein
RefSeq NM_001060.5:c.924T>C NP_001051.1:p.Tyr308=
NM_201636.2:c.924T>C NP_963998.2:p.Tyr308=
Ensemble ENST00000375190.10:c.924T>C ENST00000375190.10:p.Tyr308=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.173
ToMMo:0.161
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.221

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 188070 OMIM
HGNC 11608 HGNC
Ensembl ENSG00000006638 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv60865804 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 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.013 asthma We conducted an association study between known polymorphisms of IL-5 (T-746C) a... BeFree 15805995 Detail
0.022 asthma Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate... BeFree 10830912 Detail
<0.001 allergic asthma In conclusion, our results suggest that the T924C marker in the TBXA2R gene is a... BeFree 12000493 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001060.6(TBXA2R):c.924T>C (p.Tyr308=) AND not specified ClinVar Detail
NM_001060.6(TBXA2R):c.924T>C (p.Tyr308=) AND not provided ClinVar Detail
We conducted an association study between known polymorphisms of IL-5 (T-746C) and TBXA2R (T924C) an... DisGeNET Detail
Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial... DisGeNET Detail
In conclusion, our results suggest that the T924C marker in the TBXA2R gene is associated, in Chines... 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
rs4523 dbSNP
Genome
hg38
Position
chr19:3,595,796-3,595,796
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1149
Mean of sample read depth (HGVD)
32.83
Standard deviation of sample read depth (HGVD)
18.31
Number of reference allele (HGVD)
1900
Number of alternative allele (HGVD)
398
Allele Frequency (HGVD)
0.1731940818102698
Gene Symbol (HGVD)
TBXA2R
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))
rs4523
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1614
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2705
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
7228
East Asian Allele Counts (ExAC)
1600
East Asian Heterozygous Counts (ExAC)
1302
East Asian Homozygous Counts (ExAC)
149
East Asian Allele Frequency (ExAC)
0.22136137244050913
Chromosome Counts in All Race (ExAC)
106834
Allele Counts in All Race (ExAC)
63905
Heterozygous Counts in All Race (ExAC)
24579
Homozygous Counts in All Race (ExAC)
19663
Allele Frequency in All Race (ExAC)
0.598170994252766
Genome browser