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Variant (rsID / SNP)

rs886042000

KAT6A

rs886042000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KAT6A. Location: chromosome 8, position 41,792,233. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KAT6AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:41792233
Cytoband
8p11.21
HGVS
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)
Allele change
Nonsense_R1169X

Associated conditions / phenotypes

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|Intellectual disability

Public references

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