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Variant (rsID / SNP)

rs201419367

RIPPLY2

rs201419367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIPPLY2. Location: chromosome 6, position 84,563,879. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RIPPLY2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:84563879
Cytoband
6q14.2
HGVS
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
Allele change
Nonsense_R80X

Associated conditions / phenotypes

Spondylocostal dysostosis 6, autosomal recessive|Spondylocostal dysostosis 2, autosomal recessive

Public references

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