chr5:148827322:C>T Detail (hg38) (ADRB2)

Information

Genome

Assembly Position
hg19 chr5:148,206,885-148,206,885 View the variant detail on this assembly version.
hg38 chr5:148,827,322-148,827,322

HGVS

Type Transcript Protein
RefSeq NM_000024.5:c.491C>T NP_000015.1:p.Thr164Ile
Ensemble ENST00000305988.6:c.491C>T ENST00000305988.6:p.Thr164Ile
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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 109690 OMIM
HGNC 286 HGNC
Ensembl ENSG00000169252 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv338510193 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2004-08-01 no assertion criteria provided Beta-2-adrenoreceptor agonist, reduced response to germline Detail
Benign 2022-11-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Childhood asthma Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and ... BeFree 23463918 Detail
0.042 Chronic Obstructive Airway Disease We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (... BeFree 22075484 Detail
0.269 asthma We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (... BeFree 22075484 Detail
0.042 Chronic Obstructive Airway Disease Finally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated w... BeFree 25186548 Detail
<0.001 primary congenital glaucoma These results suggest no evidence of an association between the Arg16Gly, Glu27G... BeFree 13680034 Detail
<0.001 diabetes mellitus We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associa... BeFree 22466342 Detail
<0.001 Diabetes We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associa... BeFree 22466342 Detail
0.006 congestive heart failure Thus, the role of the Thr164Ile-beta(2)AR in CHF remains questionable. BeFree 16783489 Detail
0.203 Hypertensive disease ADRB2 Thr164Ile is associated with increased blood pressure, increased frequency... BeFree 21883537 Detail
0.001 Chronic heart failure Is there a role of the Thr164Ile-beta(2)-adrenoceptor polymorphism for the outco... BeFree 16783489 Detail
0.213 Cardiomyopathy, Dilated It has been suggested that patients with chronic heart failure (CHF) due to isch... BeFree 16783489 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile) AND Beta-2-adrenoreceptor agonist, reduced response to ClinVar Detail
NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile) AND not provided ClinVar Detail
Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and rs1800888) were geno... DisGeNET Detail
We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg ... DisGeNET Detail
We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg ... DisGeNET Detail
Finally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung fun... DisGeNET Detail
These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile pol... DisGeNET Detail
We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obe... DisGeNET Detail
We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obe... DisGeNET Detail
Thus, the role of the Thr164Ile-beta(2)AR in CHF remains questionable. DisGeNET Detail
ADRB2 Thr164Ile is associated with increased blood pressure, increased frequency of hypertension and... DisGeNET Detail
Is there a role of the Thr164Ile-beta(2)-adrenoceptor polymorphism for the outcome of chronic heart ... DisGeNET Detail
It has been suggested that patients with chronic heart failure (CHF) due to ischemic or dilated card... 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
rs1800888 dbSNP
Genome
hg38
Position
chr5:148,827,322-148,827,322
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121412
Allele Counts in All Race (ExAC)
1148
Heterozygous Counts in All Race (ExAC)
1112
Homozygous Counts in All Race (ExAC)
18
Allele Frequency in All Race (ExAC)
0.009455408032154977
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