Variant (rsID / SNP)

rs150883233

rs150883233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,002,432. Clinical significance in the table: Uncertain significance.

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Reference-table entries

INVSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:103002432
Cytoband: 9q31.1
HGVS: NM_014425.5(INVS):c.706G>A (p.Val236Met)
Allele change: Missense_V236M

Associated conditions / phenotypes

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.