Variant (rsID / SNP)

rs80044281

rs80044281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPATA7. Location: chromosome 14, position 88,883,138. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPATA7Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:88883138
Cytoband: 14q31.3
HGVS: NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
Allele change: Nonsense_R76X

Associated conditions / phenotypes

Leber congenital amaurosis 3|SPATA7-Related Disorders

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.