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Variant (rsID / SNP)

rs149951350

PDGFRA

rs149951350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRA. Location: chromosome 4, position 55,130,065. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDGFRAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:55130065
Cytoband
4q12
HGVS
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser)
Allele change
Missense_T200S

Associated conditions / phenotypes

Gastrointestinal stromal tumor|Idiopathic hypereosinophilic syndrome|Hereditary cancer-predisposing syndrome|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.