Variant (rsID / SNP)

rs139119218

rs139119218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITPNM3. Location: chromosome 17, position 6,373,665. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PITPNM3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:6373665
Cytoband: 17p13.2
HGVS: NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
Allele change: Missense_T563M

Associated conditions / phenotypes

Cone-rod dystrophy 5|Retinitis pigmentosa

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.