Variant (rsID / SNP)

rs193922525

rs193922525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,304,824. Clinical significance in the table: Pathogenic; drug response.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic; drug response
Variant type: single nucleotide variant
Chromosome / position: 7:117304824
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
Allele change: Missense_G1349D

Associated conditions / phenotypes

Cystic fibrosis|ivacaftor response - Efficacy|CFTR-related disorders|Hereditary pancreatitis

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.