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Variant (rsID / SNP)

rs181854060

PDGFRA

rs181854060 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRA. Location: chromosome 4, position 55,140,770. 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
4:55140770
Cytoband
4q12
HGVS
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)
Allele change
Missense_V544A

Associated conditions / phenotypes

Isolated cleft palate|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome

Public references

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