Variant (rsID / SNP)

rs28493751

rs28493751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITPNM3. Location: chromosome 17, position 6,441,376. Clinical significance in the table: Benign.

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Reference-table entries

PITPNM3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:6441376
Cytoband: 17p13.1
HGVS: NM_031220.4(PITPNM3):c.49C>T (p.Pro17Ser)
Allele change: Missense_P17S

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.