Variant (rsID / SNP)
rs34957318
rs34957318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPC, BMP1. Location: chromosome 8, position 22,021,460. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SFTPCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:22021460
- Cytoband
- 8p21.3
- HGVS
- NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)
- Allele change
- Missense_R114Q
Associated conditions / phenotypes
Surfactant metabolism dysfunction, pulmonary, 2|Idiopathic Pulmonary Fibrosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.