Variant (rsID / SNP)

rs374239531

rs374239531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRB. Location: chromosome 5, position 149,513,520. Clinical significance in the table: Likely benign.

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Reference-table entries

PDGFRBLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:149513520
Cytoband: 5q32
HGVS: NM_002609.4(PDGFRB):c.683G>A (p.Gly228Asp)
Allele change: Missense_G164A

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.