A T to C substitution at coding cDNA nucleotide 1886 (c.1886T>C) results in a change of valine codon 629 to alanine (p.V629A). (J:137816)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count