Variant (rsID / SNP)

rs200844390

rs200844390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,055,234. Clinical significance in the table: Pathogenic.

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Reference-table entries

INVSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:103055234
Cytoband: 9q31.1
HGVS: NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
Allele change: Nonsense_R899X

Associated conditions / phenotypes

Infantile nephronophthisis|Nephronophthisis

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.