Variant (rsID / SNP)

rs193922516

rs193922516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,250,622. 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: 7:117250622
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
Allele change: Missense_P1013H

Associated conditions / phenotypes

Inborn genetic diseases|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.