Variant (rsID / SNP)

rs148791504

rs148791504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KATNAL2. Location: chromosome 18, position 44,584,658. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KATNAL2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:44584658
Cytoband: 18q21.1
HGVS: NM_001387690.1(KATNAL2):c.385C>T (p.Arg129Trp)
Allele change: Missense_R155W

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.