Variant (rsID / SNP)

rs193922528

rs193922528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,306,999. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117306999
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)
Allele change: Missense_I1427T

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.