Variant (rsID / SNP)

rs138427145

rs138427145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,199,578. 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: 7:117199578
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
Allele change: Missense_S485C

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.