Variant (rsID / SNP)

rs1731017

rs1731017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABAT. Location: chromosome 16, position 8,839,954. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABATBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:8839954
Cytoband: 16p13.2
HGVS: NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)
Allele change: Missense_Q56R

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.