Variant (rsID / SNP)

rs3809835

rs3809835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITPNM3. Location: chromosome 17, position 6,406,883. 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: 17:6406883
Cytoband: 17p13.1
HGVS: NM_031220.4(PITPNM3):c.238G>A (p.Ala80Thr)
Allele change: Missense_A80T

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.