Variant (rsID / SNP)

rs281865171

rs281865171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TULP1, TEAD3. Location: chromosome 6, position 35,466,243. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TULP1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:35466243
Cytoband: 6p21.31
HGVS: NM_003322.6(TULP1):c.1496-6C>A
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa|Retinal dystrophy|Retinitis pigmentosa 14|Leber congenital amaurosis

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.