Variant (rsID / SNP)

rs149271402

rs149271402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABAT. Location: chromosome 16, position 8,862,087. Clinical significance in the table: Likely benign.

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Reference-table entries

ABATLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:8862087
Cytoband: 16p13.2
HGVS: NM_020686.6(ABAT):c.641T>C (p.Met214Thr)
Allele change: Missense_M214T

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.