Variant (rsID / SNP)

rs184520335

rs184520335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTAP. Location: chromosome 9, position 21,854,745. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MTAPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:21854745
Cytoband: 9p21.3
HGVS: NM_002451.4(MTAP):c.566G>T (p.Trp189Leu)
Allele change: Missense_W189L

Associated conditions / phenotypes

Diaphyseal medullary stenosis-bone malignancy syndrome

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.