WDR89 WD repeat domain 89

Canonical transcript: NM_080666

25 unique variant annotations were identified in 8 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
14-64065699-G-A c.962C>T p.Ala321Val Missense 3/3 - 1
14-64065699-G-C c.962C>G p.Ala321Gly Missense 3/3 - 1
14-64065801-T-C c.860A>G p.Asp287Gly Missense 3/3 - 1
14-64065840-A-G c.821T>C p.Leu274Ser Missense 3/3 - 1
14-64066066-C-T c.595G>A p.Asp199Asn Missense 3/3 - 1
14-64066108-T-C c.553A>G p.Met185Val Missense 3/3 - 1
14-64066301-A-C c.360T>G p.Ser120Arg Missense 3/3 - 1
14-64066301-A-T c.360T>A p.Ser120Arg Missense 3/3 - 1
14-64066303-T-G c.358A>C p.Ser120Arg Missense 3/3 - 1
14-64066302-C-T c.359G>A p.Ser120Asn Missense 3/3 - 1
14-64066326-C-T c.335G>A p.Gly112Asp Missense 3/3 - 1
14-64066352-T-A c.309A>T p.Arg103Ser Missense 3/3 - 1
14-64066352-T-G c.309A>C p.Arg103Ser Missense 3/3 - 1
14-64066363-G-A c.298C>T p.Arg100* Nonsense 3/3 - 1
14-64066367-A-C c.294T>G p.Asp98Glu Missense 3/3 - 1
14-64066367-A-T c.294T>A p.Asp98Glu Missense 3/3 - 1
14-64066395-C-T c.266G>A p.Cys89Tyr Missense 3/3 - 1
14-64066398-G-C c.263C>G p.Ala88Gly Missense 3/3 - 1
14-64066402-A-G c.259T>C p.Ser87Pro Missense 3/3 - 1
14-64066431-C-T c.230G>A p.Arg77Lys Missense 3/3 - 1
14-64066453-G-A c.208C>T p.Pro70Ser Missense 3/3 - 1
14-64066471-G-A c.190C>T p.Arg64* Nonsense 3/3 - 1
14-64066471-G-T c.190C>A p.Arg64Arg Synonymous 3/3 - 1
14-64096462-C-T c.-137-4711G>A - intron_variant - 1/2 1
14-64108538-T-C c.-154A>G - 5_prime_UTR_variant 1/3 - 2