Variant (rsID / SNP)
rs2787374
rs2787374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,054,951. Clinical significance in the table: Benign.
Reference-table entries
INVSBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:103054951
- Cytoband
- 9q31.1
- HGVS
- NM_014425.5(INVS):c.2412T>C (p.Ser804=)
- Allele change
- Synonymous_S804S
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.