Variant (rsID / SNP)

rs145602190

rs145602190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFAT5. Location: chromosome 16, position 69,727,480. Clinical significance in the table: Benign.

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Reference-table entries

NFAT5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:69727480
Cytoband: 16q22.1
HGVS: NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg)
Allele change: Missense_Q1250R

Associated conditions / phenotypes

Immunodeficiency

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.