Variant (rsID / SNP)

rs41312220

rs41312220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,002,466. 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: 9:103002466
Cytoband: 9q31.1
HGVS: NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
Allele change: Missense_N247S

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.