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Variant (rsID / SNP)

rs34682727

SPATA7

rs34682727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPATA7. Location: chromosome 14, position 88,893,018. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPATA7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:88893018
Cytoband
14q31.3
HGVS
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
Allele change
Missense_R240Q

Associated conditions / phenotypes

Retinitis pigmentosa|Leber congenital amaurosis 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.