A to G transition at 94586554 bp on Chromosome 7. Position 1320 of the Tyr transcript using Genbank record NM_011661, in exon 4 of 5 total exons. Results in a histidine to arginine substitution at amino acid 420 of the encoded protein. (J:167507)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count