Variant (rsID / SNP)

rs117997391

rs117997391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11. Location: chromosome 16, position 89,346,774. Clinical significance in the table: Benign.

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Reference-table entries

ANKRD11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:89346774
Cytoband: 16q24.3
HGVS: NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His)
Allele change: Missense_P2059H

Associated conditions / phenotypes

Autism spectrum disorder|KBG syndrome

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.