Variant (rsID / SNP)

rs147744268

rs147744268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11. Location: chromosome 16, position 89,351,923. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANKRD11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:89351923
Cytoband: 16q24.3
HGVS: NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile)
Allele change: Missense_V343I

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.