Variant (rsID / SNP)
rs116606949
rs116606949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,054,849. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
INVSConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:103054849
- Cytoband
- 9q31.1
- HGVS
- NM_014425.5(INVS):c.2310C>T (p.His770=)
- Allele change
- Synonymous_H770H
Associated conditions / phenotypes
Nephronophthisis|Infantile nephronophthisis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.