Variant (rsID / SNP)

rs3740321

rs3740321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KAT6B. Location: chromosome 10, position 76,789,077. Clinical significance in the table: Benign.

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Reference-table entries

KAT6BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:76789077
Cytoband: 10q22.2
HGVS: NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile)
Allele change: Missense_V1207I

Associated conditions / phenotypes

Genitopatellar 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.