Variant (rsID / SNP)

rs60887846

rs60887846 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,243,748. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CFTRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:117243748
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
Allele change: Synonymous_T940T

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|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.