Variant (rsID / SNP)

rs144343499

rs144343499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NFAT5. Location: chromosome 16, position 69,725,807. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NFAT5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:69725807
Cytoband: 16q22.1
HGVS: NM_138713.4(NFAT5):c.2079G>A (p.Leu693=)
Allele change: Synonymous_L692L

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.