Variant (rsID / SNP)

rs2291591

rs2291591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRA. Location: chromosome 4, position 55,147,769. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PDGFRALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:55147769
Cytoband: 4q12
HGVS: NM_006206.6(PDGFRA):c.2323+1120C>T
Allele change: Missense_T782M

Associated conditions / phenotypes

Myeloproliferative neoplasm, unclassifiable

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.