Variant (rsID / SNP)

rs116438342

rs116438342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,008,904. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

INVSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:103008904
Cytoband: 9q31.1
HGVS: NM_014425.5(INVS):c.913G>A (p.Val305Ile)
Allele change: Missense_V305I

Associated conditions / phenotypes

Nephronophthisis|Infantile 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.