Gene: TMEM186 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057523345
rs1057523345
ABAT ; TMEM186
A 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs781555217
rs781555217
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
dbSNP: rs781555217
rs781555217
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs1555494322
rs1555494322
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR