Variant (rsID / SNP)

rs139459217

rs139459217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPRN. Location: chromosome 9, position 140,087,121. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TPRNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:140087121
Cytoband: 9q34.3
HGVS: NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg)
Allele change: Missense_K583R

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.