Variant (rsID / SNP)

rs201503614

rs201503614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRA. Location: chromosome 4, position 55,141,054. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDGFRAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:55141054
Cytoband: 4q12
HGVS: NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu)
Allele change: Missense_P567L

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.