c.1991A>G (p.Asp664Gly)
Variant ID Exon
96 Exon 20
Conservation score Domains RNA effect Grantham score Control frequency Controls origin Polyphen Sift
1.00 CC II identical to DNA mutation 94 0/94 Central Europe, Middle East, East Asia and US
Patient information Allele 1 Allele 2  
Patient ID Family ID Gender Age Origin Disease Segregation Parental consanguinity Consanguinity degree Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Exon/intron Nucleotide nomencl. Protein nomencl. Detection method Reference
F459 II-2 F459   United States Of America JS + kidney yes no Exon 21 A1991G D664G DHPLC
Pol4 Pol4   H unknown unknown Exon 20 c.1991A>G D664G Direct sequencing (Sanger)