1:43395556-43395556 G > A

Classification

Category 1
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: SLC2A1 synonym(s): DYT17, DYT18, DYT9, EIG12, GLUT, GLUT1, GLUT1DS, HTLVR, PED, SLC2A1, ENSG00000117394

OMIM
OMIM:138140: SLC2A1 (Autosomal dominant inheritance)
OMIM:601042: Dystonia 9
OMIM:606777: GLUT1 deficiency syndrome 1, infantile onset, severe
OMIM:612126: GLUT1 deficiency syndrome 2, childhood onset
OMIM:608885: Stomatin-deficient cryohydrocytosis with neurologic defects
OMIM:614847: {Epilepsy, idiopathic generalized, susceptibility to, 12}

NM_006516.2 [CDS]
hgvs_c: NM_006516.2:c.667C>T
reference AA: R
variant AA: W
reference codon: Cgg
variant codon: Tgg
cDNA pos: 1192
CDS pos: 667
translation impact: non_synonymous
protein sequence: NP_006507.2
AA pos: 223
hgvs_p: NP_006507.2:p.Arg223Trp
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.85)

rs796053248

207193
clinvar_significance = Pathogenic
clinvar_disease = Dystonia 9
clinvar_disease = Stomatin-deficient cryohydrocytosis with neurologic defects
clinvar_disease = GLUT1 deficiency syndrome 2
clinvar_disease = GLUT1 deficiency syndrome 1