Variant (rsID / SNP)

rs886041791

rs886041791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11. Location: chromosome 16, position 89,350,753. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ANKRD11Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89350753
Cytoband: 16q24.3
HGVS: NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
Allele change: Nonsense_R733X

Associated conditions / phenotypes

Inborn genetic diseases|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.