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Variant (rsID / SNP)

rs1800097

CFTR

rs1800097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,230,411. 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
7:117230411
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
Allele change
Missense_V562L

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Hereditary pancreatitis

Public references

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