PMID: 24040047

SOX9 duplication linked to intersex in deer.

PloS one
R Kropatsch, G Dekomien, DA Akkad, WM Gerding, E Petrasch-Parwez, ND Young, J Altmüller, P Nürnberg, RB Gasser, JT Epplen
2013

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-70120009-C-A SOX9 c.1011C>A p.Ser337Ser Synonymous 3/3 -
11-32417858-G-A WT1 c.1143C>T p.Cys381Cys Synonymous 6/9 -
13-22255233-G-C FGF9 c.330G>C p.Val110Val Synonymous 2/3 -
13-22255233-G-T FGF9 c.330G>T p.Val110Val Synonymous 2/3 -
13-22255233-G-A FGF9 c.330G>A p.Val110Val Synonymous 2/3 -
4-72629533-G-A GC c.594C>T p.Cys198Cys Synonymous 5/13 -
X-139587133-C-G SOX3 c.93G>C p.Pro31Pro Synonymous 1/1 -
11-32449561-G-A WT1 c.813C>T p.His271His Synonymous 3/9 -
X-139586266-G-A SOX3 c.960C>T p.Tyr320Tyr Synonymous 1/1 -
8-133899300-C-A TG c.1683C>A p.Asn561Lys Missense 9/48 -
17-70118956-G-A SOX9 c.528G>A p.Pro176Pro Synonymous 2/3 -
X-139586725-A-G SOX3 c.501T>C p.Ser167Ser Synonymous 1/1 -
8-133899717-C-T TG c.2100C>T p.Asn700Asn Synonymous 9/48 -
17-70120009-C-G SOX9 c.1011C>G p.Ser337Ser Synonymous 3/3 -
17-70120250-A-G SOX9 c.1252A>G p.Ile418Val Missense 3/3 -
13-22275541-T-G FGF9 c.594T>G p.Pro198Pro Synonymous 3/3 -
13-22275541-T-A FGF9 c.594T>A p.Pro198Pro Synonymous 3/3 -
13-22275541-T-C FGF9 c.594T>C p.Pro198Pro Synonymous 3/3 -
17-70120009-C-T SOX9 c.1011C>T p.Ser337Ser Synonymous 3/3 -
8-133894778-C-G TG c.810C>G p.Thr270Thr Synonymous 7/48 -
8-133894778-C-A TG c.810C>A p.Thr270Thr Synonymous 7/48 -