Variant (rsID / SNP)

rs137852353

rs137852353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF2RA. Clinical significance in the table: Pathogenic.

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Reference-table entries

CSF2RAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.33;Yp11.2
HGVS: NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg)
Allele change: Missense_G196R

Associated conditions / phenotypes

Surfactant metabolism dysfunction, pulmonary, 4

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.