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Variant (rsID / SNP)

rs199800166

ANKRD11

rs199800166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11. Location: chromosome 16, position 89,350,266. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANKRD11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:89350266
Cytoband
16q24.3
HGVS
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln)
Allele change
Missense_R895Q

Associated conditions / phenotypes

KBG syndrome|Autism spectrum disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.