Variant (rsID / SNP)

rs121909076

rs121909076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TULP1. Location: chromosome 6, position 35,471,593. Clinical significance in the table: Pathogenic.

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Reference-table entries

TULP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:35471593
Cytoband: 6p21.31
HGVS: NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)
Allele change: Missense_F329S

Associated conditions / phenotypes

Retinitis pigmentosa 14|Retinitis pigmentosa

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.