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NM_138554.5(TLR4):c.2474G>A (p.Gly825Glu) AND Hereditary angioedema with normal C1Inh

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2020
Review status:
no classification 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:
RCV001027422.1

Allele description

NM_138554.5(TLR4):c.2474G>A (p.Gly825Glu)

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.2474G>A (p.Gly825Glu)
HGVS:
  • NC_000009.12:g.117714602G>A
  • NG_011475.1:g.15421G>A
  • NM_003266.4:c.2354G>A
  • NM_138554.5:c.2474G>AMANE SELECT
  • NM_138557.3:c.1874G>A
  • NP_003257.1:p.Gly785Glu
  • NP_612564.1:p.Gly825Glu
  • NP_612567.1:p.Gly625Glu
  • LRG_320t1:c.2474G>A
  • LRG_320p1:p.Gly825Glu
  • NC_000009.11:g.120476880G>A
  • NM_138554.4:c.2474G>A
Protein change:
G625E
Links:
dbSNP: rs1588095779
NCBI 1000 Genomes Browser:
rs1588095779
Molecular consequence:
  • NM_003266.4:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138554.5:c.2474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138557.3:c.1874G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary angioedema with normal C1Inh
Synonyms:
Hereditary angioneurotic edema with normal C1 esterase inhibitor activity
Identifiers:
MONDO: MONDO:0100567; MedGen: C1960459

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001189976CeMIA
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, González-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE.

J Clin Med. 2020 Oct 23;9(11). doi: 10.3390/jcm9113402.

PubMed [citation]
PMID:
33114181
PMCID:
PMC7690775

Details of each submission

From CeMIA, SCV001189976.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024