Full data view for gene TEK


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_000459.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 17 c.2690A>G r.(?) p.(Tyr897Cys) Unknown - pathogenic g.27212708A>G g.27212710A>G g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/. - c.2690A>G r.(?) p.(Tyr897Cys) Unknown - pathogenic g.27212708A>G - TEK(NM_000459.5):c.2690A>G (p.Y897C) - TEK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2690A>G r.(?) p.(Tyr897Cys) Unknown - pathogenic g.27212708A>G - TEK(NM_000459.5):c.2690A>G (p.Y897C) - TEK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA ? - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Boscolo 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Wouters 2010 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA ? - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA ? - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2013 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA ? - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2013 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA ? - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2013 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2013 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Boscolo 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA ? - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2009 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - MSVM - PubMed: Limaye 2009, PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - RNA SEQ - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2009 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Soblet 2013 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/+ 17 c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T g.27212760C>T g.108612C>T - TEK_000005 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2016 - - - - - - - - - 1 Antonella Mendola
+/. - c.2740C>T r.(?) p.(Leu914Phe) Unknown - pathogenic g.27212758C>T - - - TEK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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