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Variant (rsID / SNP)

rs213950

CFTR

rs213950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,199,533. 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
7:117199533
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
Allele change
Missense_V470M

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders

Public references

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