Variant (rsID / SNP)

rs139729994

rs139729994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,254,767. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117254767
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
Allele change: Missense_L1156F

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|Cystic fibrosis|CFTR-related disorders|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.