Variant (rsID / SNP)

rs150214547

rs150214547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPA1. Location: chromosome 10, position 81,373,752. Clinical significance in the table: Likely benign.

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Reference-table entries

SFTPA1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:81373752
Cytoband: 10q22.3
HGVS: NM_005411.5(SFTPA1):c.630C>G (p.Asn210Lys)
Allele change: Missense_N210K

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.