Variant (rsID / SNP)

rs121434578

rs121434578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABAT. Location: chromosome 16, position 8,862,105. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:8862105
Cytoband: 16p13.2
HGVS: NM_020686.6(ABAT):c.659G>A (p.Arg220Lys)
Allele change: Missense_R220K

Associated conditions / phenotypes

Gamma-aminobutyric acid transaminase deficiency

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.