Variant (rsID / SNP)

rs150480343

rs150480343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TULP1. Location: chromosome 6, position 35,477,011. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TULP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:35477011
Cytoband: 6p21.31
HGVS: NM_003322.6(TULP1):c.797G>T (p.Gly266Val)
Allele change: Missense_G213V

Associated conditions / phenotypes

Leber congenital amaurosis 15|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.