Variant (rsID / SNP)

rs140502196

rs140502196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,171,011. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFTRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:117171011
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
Allele change: Missense_P111L

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders|See cases

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.