Variant (rsID / SNP)

rs397508824

rs397508824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,180,269. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 7:117180269
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.987del (p.Gly330fs)

Associated conditions / phenotypes

Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|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.