Variant (rsID / SNP)

rs3824276

rs3824276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KAT6A. Location: chromosome 8, position 41,906,095. Clinical significance in the table: Benign.

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Reference-table entries

KAT6ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:41906095
Cytoband: 8p11.21
HGVS: NM_006766.5(KAT6A):c.401T>C (p.Leu134Ser)
Allele change: Missense_L134S

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.