Variant (rsID / SNP)

rs148451236

rs148451236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITPNM3. Location: chromosome 17, position 6,380,447. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PITPNM3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:6380447
Cytoband: 17p13.2
HGVS: NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)
Allele change: Synonymous_L329L

Associated conditions / phenotypes

Cone-rod dystrophy 5

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.