All variants in the TTPA gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000370.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.1A>T r.(?) p.(Met1?) - pathogenic g.63998580T>A g.63086021T>A - - TTPA_000022 - PubMed: Thomas 2022 - - Germline - - - - - Johan den Dunnen
+?/. 1 c.26C>A r.(?) p.(Ser9Ter) - likely pathogenic g.63998555G>T g.63085996G>T - - TTPA_000021 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.205-1G>C r.spl? p.? - pathogenic g.63985648C>G - - - TTPA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.218A>G r.(?) p.(Tyr73Cys) - VUS g.63985634T>C g.63073075T>C - - TTPA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.305G>A r.(?) p.(Gly102Glu) - VUS g.63985547C>T g.63072988C>T - - TTPA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.359-3del r.spl? p.? - benign g.63978666del g.63066107del TTPA(NM_000370.3):c.359-3delT - TTPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.359-3del r.spl? p.? - benign g.63978666del g.63066107del TTPA(NM_000370.3):c.359-3delT - TTPA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.400C>T r.(?) p.(Arg134Ter) - pathogenic g.63978615G>A g.63066056G>A - - TTPA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.421G>A r.(?) p.(Glu141Lys) - likely pathogenic g.63978594C>T g.63066035C>T - - TTPA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.452G>A r.(?) p.(Arg151Gln) - VUS g.63978563C>T g.63066004C>T TTPA(NM_000370.3):c.452G>A (p.R151Q) - TTPA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.452G>A r.(?) p.(Arg151Gln) - VUS g.63978563C>T g.63066004C>T TTPA(NM_000370.3):c.452G>A (p.R151Q) - TTPA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.452G>A r.(?) p.(Arg151Gln) - likely pathogenic g.63978563C>T g.63066004C>T TTPA Ex.3 c.452G>A p.(Arg151Gln), Ex.3 c.513_514insTT p.(Thr172Leufs*5) - TTPA_000013 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - LOVD
?/. - c.485G>T r.(?) p.(Gly162Val) - VUS g.63978530C>A - TTPA(NM_000370.3):c.485G>T (p.G162V) - TTPA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.487del r.(?) p.(Trp163GlyfsTer13) - pathogenic g.63978529del g.63065970del TTPA(NM_000370.3):c.487delT (p.W163Gfs*13) - TTPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.487del r.(?) p.(Trp163GlyfsTer13) - pathogenic g.63978529del g.63065970del TTPA(NM_000370.3):c.487delT (p.W163Gfs*13) - TTPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.487del r.(?) p.(Trp163GlyfsTer13) - pathogenic g.63978529del g.63065970del TTPA(NM_000370.3):c.487delT (p.W163Gfs*13) - TTPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.513_514insTT r.(?) p.(Thr172LeufsTer5) - pathogenic g.63978501_63978502insAA g.63065942_63065943insAA TTPA(NM_000370.3):c.513_514insTT (p.(Thr172LeufsTer5)) - TTPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 3 c.513_514insTT r.(?) p.(Thr172Leufs*5) - likely pathogenic g.63978501_63978502insAA g.63065942_63065943insAA TTPA Ex.3 c.452G>A p.(Arg151Gln), Ex.3 c.513_514insTT p.(Thr172Leufs*5) - TTPA_000012 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - LOVD
+/. - c.513_514insTT r.(?) p.(Thr172LeufsTer5) ACMG pathogenic g.63978501_63978502insAA g.63065942_63065943insAA - - TTPA_000012 - PubMed: Thomas 2022 - - Germline - - - - - Johan den Dunnen
+/. - c.513_514insTT r.(?) p.(Thr172LeufsTer5) - pathogenic g.63978501_63978502insAA - TTPA(NM_000370.3):c.513_514insTT (p.(Thr172LeufsTer5)) - TTPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.575G>A r.(?) p.(Arg192His) - likely pathogenic g.63976853C>T g.63064294C>T - - TTPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.599C>T r.(?) p.(Pro200Leu) ACMG VUS g.63976829G>A - - - TTPA_000019 - PubMed: Al-Bdour 2020 - - Germline - - - - - Johan den Dunnen
?/. - c.616G>A r.(?) p.(Val206Ile) - VUS g.63976812C>T g.63064253C>T - - TTPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.661C>T r.(?) p.(Arg221Trp) - VUS g.63976767G>A g.63064208G>A - - TTPA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.663+1G>A r.spl? p.? - pathogenic g.63976764C>T g.63064205C>T - - TTPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.663+11T>C r.(=) p.(=) - benign g.63976754A>G g.63064195A>G TTPA(NM_000370.3):c.663+11T>C - TTPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.663+11T>C r.(=) p.(=) - benign g.63976754A>G g.63064195A>G TTPA(NM_000370.3):c.663+11T>C - TTPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.663+11T>C r.(=) p.(=) - benign g.63976754A>G g.63064195A>G TTPA(NM_000370.3):c.663+11T>C - TTPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.664-4T>G r.spl? p.? - likely benign g.63973988A>C g.63061429A>C TTPA(NM_000370.3):c.664-4T>G - TTPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.664-4T>G r.spl? p.? - likely benign g.63973988A>C - TTPA(NM_000370.3):c.664-4T>G - TTPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.744del r.(?) p.(Glu249AsnfsTer15) - pathogenic g.63973905del g.63061346del TTPA(NM_000370.3):c.744delA (p.E249Nfs*15) - TTPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.744del r.(?) p.(Glu249AsnfsTer15) - pathogenic g.63973905del g.63061346del TTPA(NM_000370.3):c.744delA (p.E249Nfs*15) - TTPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.762C>A r.(?) p.(Asp254Glu) - VUS g.63973886G>T - TTPA(NM_000370.3):c.762C>A (p.D254E) - TTPA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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