Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs373885282

CFTR

rs373885282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,243,686. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CFTRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:117243686
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
Allele change
Missense_V920M

Associated conditions / phenotypes

Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation

Public references

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