Variant (rsID / SNP)

rs368393738

rs368393738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,267,624. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CFTRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:117267624
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
Allele change: Missense_G1173S

Associated conditions / phenotypes

Cystic fibrosis|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.