Variant (rsID / SNP)

rs140989004

rs140989004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KAT6B. Location: chromosome 10, position 76,788,300. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KAT6BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:76788300
Cytoband: 10q22.2
HGVS: NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys)
Allele change: Missense_E948K

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.