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Variant (rsID / SNP)

rs142195196

NFKBIA

rs142195196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFKBIA. Location: chromosome 14, position 35,872,059. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NFKBIAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:35872059
Cytoband
14q13.2
HGVS
NM_020529.3(NFKBIA):c.554C>T (p.Thr185Met)
Allele change
Missense_T185M

Associated conditions / phenotypes

Ectodermal dysplasia and immunodeficiency 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.