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Variant (rsID / SNP)

rs151048781

CFTR

rs151048781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,243,784. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFTRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:117243784
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
Allele change
Missense_M952I

Associated conditions / phenotypes

Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Inborn genetic diseases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.