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NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp) AND not provided

Germline classification:
not provided (1 submission)
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:
RCV000059071.1

Allele description [Variation Report for NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp)]

NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp)

Gene:
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp)
HGVS:
  • NC_000023.11:g.154556344C>T
  • NG_009896.1:g.19101C>T
  • NM_001099856.6:c.571C>T
  • NM_001099857.5:c.367C>TMANE SELECT
  • NM_001145255.4:c.367C>T
  • NM_001321396.3:c.367C>T
  • NM_001321397.3:c.367C>T
  • NM_001377312.1:c.367C>T
  • NM_001377313.1:c.367C>T
  • NM_001377314.1:c.367C>T
  • NM_001377315.1:c.367C>T
  • NM_003639.4:c.367C>T
  • NP_001093326.2:p.Arg191Trp
  • NP_001093327.1:p.Arg123Trp
  • NP_001138727.1:p.Arg123Trp
  • NP_001308325.1:p.Arg123Trp
  • NP_001308326.1:p.Arg123Trp
  • NP_001364241.1:p.Arg123Trp
  • NP_001364242.1:p.Arg123Trp
  • NP_001364243.1:p.Arg123Trp
  • NP_001364244.1:p.Arg123Trp
  • NP_003630.1:p.Arg123Trp
  • LRG_70t1:c.367C>T
  • LRG_70:g.19101C>T
  • NC_000023.10:g.153784559C>T
  • NM_003639.3:c.367C>T
  • NR_165197.1:n.508C>T
  • Q9Y6K9:p.Arg123Trp
Protein change:
R123W
Links:
UniProtKB: Q9Y6K9#VAR_026494; UniProtKB/Swiss-Prot: VAR_026494; dbSNP: rs179363895
NCBI 1000 Genomes Browser:
rs179363895
Molecular consequence:
  • NM_001099856.6:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099857.5:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145255.4:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321396.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321397.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377312.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377313.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377314.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377315.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003639.4:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165197.1:n.508C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090592UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV.

Hum Mol Genet. 2004 Aug 15;13(16):1763-73. Epub 2004 Jun 30.

PubMed [citation]
PMID:
15229184

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022