Variant (rsID / SNP)

rs397508496

rs397508496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,250,687. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117250687
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
Allele change: Nonsense_Q1035X

Associated conditions / phenotypes

Cystic fibrosis|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.