Variant (rsID / SNP)

rs3169862

rs3169862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITPNM3, PIMREG. Location: chromosome 17, position 6,354,965. 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: 17:6354965
Cytoband: 17p13.2
HGVS: NM_031220.4(PITPNM3):c.*3693A>G
Allele change: Silent

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.