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NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro) 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:
RCV000059074.1

Allele description [Variation Report for NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro)]

NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro)

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.680T>C (p.Leu227Pro)
HGVS:
  • NC_000023.11:g.154561696T>C
  • NG_009896.1:g.24453T>C
  • NM_001099856.6:c.884T>C
  • NM_001099857.5:c.680T>CMANE SELECT
  • NM_001145255.4:c.527T>C
  • NM_001321396.3:c.680T>C
  • NM_001321397.3:c.677T>C
  • NM_001377312.1:c.680T>C
  • NM_001377313.1:c.677T>C
  • NM_001377314.1:c.524T>C
  • NM_001377315.1:c.400-1114T>C
  • NM_003639.4:c.680T>C
  • NP_001093326.2:p.Leu295Pro
  • NP_001093327.1:p.Leu227Pro
  • NP_001138727.1:p.Leu176Pro
  • NP_001308325.1:p.Leu227Pro
  • NP_001308326.1:p.Leu226Pro
  • NP_001364241.1:p.Leu227Pro
  • NP_001364242.1:p.Leu226Pro
  • NP_001364243.1:p.Leu175Pro
  • NP_003630.1:p.Leu227Pro
  • LRG_70t1:c.680T>C
  • LRG_70:g.24453T>C
  • NC_000023.10:g.153789911T>C
  • NM_003639.3:c.680T>C
  • NR_165197.1:n.549T>C
  • Q9Y6K9:p.Leu227Pro
Protein change:
L175P
Links:
UniProtKB: Q9Y6K9#VAR_011321; UniProtKB/Swiss-Prot: VAR_011321; dbSNP: rs179363869
NCBI 1000 Genomes Browser:
rs179363869
Molecular consequence:
  • NM_001377315.1:c.400-1114T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099856.6:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099857.5:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145255.4:c.527T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321396.3:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321397.3:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377312.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377313.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377314.1:c.524T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003639.4:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165197.1:n.549T>C - 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
SCV000090595UniProtKB/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

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, et al.

Nat Genet. 2001 Mar;27(3):277-85.

PubMed [citation]
PMID:
11242109

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090595.1

#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