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NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 6, 2004
Accession:
VCV000014003.1
Variation ID:
14003
Description:
single nucleotide variant
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NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile)

Allele ID
29042
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q13.2
Genomic location
14: 35404550 (GRCh38) GRCh38 UCSC
14: 35873756 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.35404550C>A
NC_000014.8:g.35873756C>A
NM_020529.2:c.95G>T NP_065390.1:p.Ser32Ile missense
... more HGVS
Protein change
S32I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P25963#VAR_034871
OMIM: 164008.0001
dbSNP: rs28933100
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 6, 2004 RCV000015040.27
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NFKBIA - - GRCh38
GRCh37
47 68

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 06, 2004)
no assertion criteria provided
Method: literature only
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
Allele origin: germline
OMIM
Accession: SCV000035296.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. Janssen R The Journal of experimental medicine 2004 PMID: 15337789
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. Courtois G The Journal of clinical investigation 2003 PMID: 14523047

Record last updated Jun 13, 2019