Variant (rsID / SNP)

rs786200960

rs786200960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KAT6A. Location: chromosome 8, position 41,792,353. Clinical significance in the table: Pathogenic.

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Reference-table entries

KAT6APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:41792353
Cytoband: 8p11.21
HGVS: NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
Allele change: Nonsense_R1129X

Associated conditions / phenotypes

KAT6A syndrome|Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|Inborn genetic diseases

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.