Variant (rsID / SNP)

rs193922518

rs193922518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,171,034. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:117171034
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
Allele change: Missense_I119V

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders

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.