Variant (rsID / SNP)

rs751218423

rs751218423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLUAP1. Location: chromosome 16, position 3,573,261. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLUAP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:3573261
Cytoband: 16p13.3
HGVS: NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)
Allele change: Missense_L273F

Associated conditions / phenotypes

Toriello-Lacassie-Droste syndrome|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.