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NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) AND COPD, severe early onset

Germline classification:
Likely risk allele (1 submission)
Last evaluated:
Sep 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003390649.1

Allele description [Variation Report for NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)]

NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)

Gene:
TLR4:toll like receptor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.1
Genomic location:
Preferred name:
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)
HGVS:
  • NC_000009.12:g.117713024A>G
  • NG_011475.1:g.13843A>G
  • NG_011475.2:g.13622A>G
  • NM_003266.4:c.776A>G
  • NM_138554.5:c.896A>GMANE SELECT
  • NM_138557.3:c.296A>G
  • NP_003257.1:p.Asp259Gly
  • NP_612564.1:p.Asp299Gly
  • NP_612567.1:p.Asp99Gly
  • LRG_320t1:c.896A>G
  • LRG_320:g.13622A>G
  • LRG_320p1:p.Asp299Gly
  • NC_000009.11:g.120475302A>G
  • O00206:p.Asp299Gly
Protein change:
D259G; Asp299Gly
Links:
UniProtKB: O00206#VAR_012739; OMIM: 603030.0001; dbSNP: rs4986790
NCBI 1000 Genomes Browser:
rs4986790
Molecular consequence:
  • NM_003266.4:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138554.5:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138557.3:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Increased function

Condition(s)

Name:
COPD, severe early onset
Synonyms:
Pulmonary disease, chronic obstructive, severe early-onset
Identifiers:
MONDO: MONDO:0011751; MedGen: C1847014

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004101792HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Likely risk allele
(Sep 1, 2023)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, SCV004101792.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Allele associated with the development of COPD secondary to tobacco smoke

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024