Variant (rsID / SNP)

rs193922519

rs193922519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,171,049. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CFTRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117171049
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)
Allele change: Missense_G124R

Associated conditions / phenotypes

Cystic fibrosis

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.