Variant (rsID / SNP)

rs199851177

rs199851177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKS6. Location: chromosome 9, position 101,498,824. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANKS6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:101498824
Cytoband: 9q22.33
HGVS: NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)
Allele change: Missense_P865S

Associated conditions / phenotypes

Nephronophthisis 16

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.