Variant (rsID / SNP)

rs3179969

rs3179969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPATA7. Location: chromosome 14, position 88,862,529. Clinical significance in the table: Benign.

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Reference-table entries

SPATA7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:88862529
Cytoband: 14q31.3
HGVS: NM_018418.5(SPATA7):c.220G>A (p.Val74Met)
Allele change: Missense_V42M

Associated conditions / phenotypes

Retinitis pigmentosa|Leber congenital amaurosis 3

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.