Variant (rsID / SNP)

rs138944476

rs138944476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KAT6A. Location: chromosome 8, position 41,791,630. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KAT6AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:41791630
Cytoband: 8p11.21
HGVS: NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)
Allele change: Missense_E1370K

Associated conditions / phenotypes

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects 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.