Variant (rsID / SNP)

rs143218779

rs143218779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,199,532. The table records no clinical significance for this variant.

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Reference-table entries

CFTRNot classified

Variant type: single nucleotide variant
Chromosome / position: 7:117199532
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.1407G>T (p.Met469Ile)
Allele change: Missense_M469I

Associated conditions / phenotypes

Cystic fibrosis

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.