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Variant (rsID / SNP)

rs202142344

ANKRD11

rs202142344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11. Location: chromosome 16, position 89,351,187. 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
16:89351187
Cytoband
16q24.3
HGVS
NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)
Allele change
Missense_S588L

Associated conditions / phenotypes

Autism spectrum disorder|Intellectual disability|KBG syndrome

Public references

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