Variant (rsID / SNP)

rs148656104

rs148656104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFKBIA. Location: chromosome 14, position 35,872,032. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NFKBIABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:35872032
Cytoband: 14q13.2
HGVS: NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala)
Allele change: Missense_G194A

Associated conditions / phenotypes

Ectodermal dysplasia and immunodeficiency 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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