1:47728587-47728587 G > C

Classification

Category 2 premature_stop
CMH MAF 4 / 13144 samples (0.0304%)
4 het., 0 hom. (100%)
4 / 26288 total alleles (0.0152%)

gene: STIL synonym(s): MCPH7, SIL, STIL, ENSG00000123473

OMIM
OMIM:181590: STIL (Autosomal recessive inheritance)
OMIM:612703: Microcephaly 7, primary, autosomal recessive

NM_003035.2 [CDS]
hgvs_c: NM_003035.2:c.2814C>G
reference AA: Y
variant AA: *
reference codon: taC
variant codon: taG
cDNA pos: 2969
CDS pos: 2814
translation impact: premature_stop
protein sequence: NP_003026.2
AA pos: 938
hgvs_p: NP_003026.2:p.Tyr938Ter
blosum: -4

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

TRNAN-GUU [intron]