1:43914060-43914060 C > T

Classification

Category 1
CMH MAF 4 / 13144 samples (0.0304%)
4 het., 0 hom. (100%)
4 / 26288 total alleles (0.0152%)

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

TRNAN-GUU [intron]

gene: SZT2 synonym(s): C1orf84, KIAA0467, RP11-506B15.1, RP11-506B15.3, SZT2A, SZT2B, SZT2, ENSG00000198198

OMIM
OMIM:615463: SZT2 (Autosomal recessive inheritance)
OMIM:615476: Epileptic encephalopathy, early infantile, 18

NM_015284.3 [CDS]
hgvs_c: NM_015284.3:c.9703C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 9787
CDS pos: 9703
translation impact: premature_stop
protein sequence: NP_056099.3
AA pos: 3235
hgvs_p: NP_056099.3:p.Arg3235Ter
blosum: -4

rs1302034044
TOPMED_MAF = 0.00000796381243628

gnomAD Other, (1 / 4746), 0.0211%