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Variant (rsID / SNP)

rs121909074

TULP1

rs121909074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TULP1. Location: chromosome 6, position 35,467,782. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TULP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:35467782
Cytoband
6p21.31
HGVS
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)
Allele change
Missense_F438L

Associated conditions / phenotypes

Retinitis pigmentosa 14|Retinal dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.