1:19545802-19545802 G > A

Classification

Category 3 curation
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: EMC1 synonym(s): KIAA0090, RP1-43E13.1, EMC1, ENSG00000127463

OMIM
OMIM:616846: EMC1
OMIM:616875: Cerebellar atrophy, visual impairment, and psychomotor retardation

NM_015047.2 [CDS]
hgvs_c: NM_015047.2:c.2977C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 3027
CDS pos: 2977
translation impact: premature_stop
protein sequence: NP_055862.1
AA pos: 993
hgvs_p: NP_055862.1:p.Arg993Ter
blosum: -4

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

TRNAN-GUU [intron]

rs758888994

gnomAD Other non-Finnish European, (1 / 30974), 0.00323% curated_classification = 3