Variant (rsID / SNP)

rs797045027

rs797045027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11. Location: chromosome 16, position 89,350,549. Clinical significance in the table: Pathogenic.

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Reference-table entries

ANKRD11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 16:89350549
Cytoband: 16q24.3
HGVS: NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)

Associated conditions / phenotypes

KBG syndrome|Rare genetic intellectual disability|Inborn genetic diseases|Global developmental delay

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.