All transcript variants in gene TSPEAR

Information The variants shown are described using the NM_144991.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend  

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.44C>T r.(?) p.(Ala15Val) - likely benign g.46131386G>A - TSPEAR(NM_144991.2):c.44C>T (p.A15V) - TSPEAR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.51C>T r.(?) p.(=) - benign g.46131379G>A - TSPEAR(NM_144991.2):c.51C>T (p.G17=) - TSPEAR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.54C>T r.(?) p.(=) - likely benign g.46131376G>A - TSPEAR(NM_144991.2):c.54C>T (p.H18=) - TSPEAR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.57C>T r.(?) p.(=) - likely benign g.46131373G>A - TSPEAR(NM_144991.2):c.57C>T (p.G19=) - TSPEAR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.82+13629A>G r.(=) p.(=) - likely benign g.46117719T>C - KRTAP10-12(NM_198699.1):c.603T>C (p.P201=) - TSPEAR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.82+64497G>A r.(=) p.(=) - VUS g.46066851C>T - KRTAP10-11(NM_198692.2):c.476C>T (p.S159F) - TSPEAR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.83-59839_83-59825del r.(=) p.(=) - VUS g.46047723_46047737del - KRTAP10-9(NM_198690.2):c.626_640del (p.?) - TSPEAR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.83-59316C>T r.(=) p.(=) - VUS g.46047205G>A - KRTAP10-9(NM_198690.2):c.117G>A (p.(=)) - TSPEAR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.83-45718G>C - p.(=) - - g.46033607C>G - - - TSPEAR_000001 - - - - Germline - - - - - Yu Sun
?/. - c.83-24475T>C r.(=) p.(=) - VUS g.46012364A>G - KRTAP10-6(NM_198688.2):c.2T>C (p.(Met1?)) - TSPEAR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.83-24474G>A r.(=) p.(=) - VUS g.46012363C>T - KRTAP10-6(NM_198688.2):c.3G>A (p.(Met1?)) - TSPEAR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.151G>A r.(?) p.(Val51Ile) - likely benign g.45987821C>T - TSPEAR(NM_144991.2):c.151G>A (p.V51I) - TSPEAR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.343G>A r.(?) p.(Asp115Asn) - likely benign g.45953767C>T - TSPEAR(NM_001272037.1):c.139G>A (p.D47N) - TSPEAR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.364C>T r.(?) p.(Arg122Trp) - VUS g.45953746G>A - TSPEAR(NM_001272037.1):c.160C>T (p.R54W) - TSPEAR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.415G>A r.(?) p.(Gly139Ser) - VUS g.45953695C>T - TSPEAR(NM_001272037.1):c.211G>A (p.G71S) - TSPEAR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.589C>T r.(?) p.(Arg197*) - pathogenic g.45950970G>A - TSPEAR(NM_001272037.1):c.385C>T (p.R129*) - TSPEAR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.614G>C r.(?) p.(Arg205Thr) - VUS g.45950945C>G - TSPEAR(NM_001272037.1):c.410G>C (p.R137T) - TSPEAR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.633+2C>T r.spl? p.? - likely pathogenic g.45950924G>A - TSPEAR(NM_144991.2):c.633+2C>T - TSPEAR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.668C>T r.(?) p.(Ser223Leu) - VUS g.45949803G>A - TSPEAR(NM_001272037.1):c.464C>T (p.S155L) - TSPEAR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.673G>A r.(?) p.(Ala225Thr) - VUS g.45949798C>T - TSPEAR(NM_001272037.1):c.469G>A (p.A157T) - TSPEAR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.714G>A r.(?) p.(=) - likely benign g.45949757C>T - TSPEAR(NM_001272037.1):c.510G>A (p.A170=) - TSPEAR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.872G>A r.(?) p.(Arg291Gln) - VUS g.45948385C>T - TSPEAR(NM_001272037.1):c.668G>A (p.R223Q) - TSPEAR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1017G>A r.(?) p.(=) - likely benign g.45947307C>T - TSPEAR(NM_001272037.1):c.813G>A (p.G271=) - TSPEAR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1273C>T r.(?) p.(Arg425*) - pathogenic g.45945599G>A - TSPEAR(NM_001272037.1):c.1069C>T (p.R357*) - TSPEAR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1329C>A r.(?) p.(His443Gln) - VUS g.45945543G>T - TSPEAR(NM_144991.2):c.1329C>A (p.H443Q) - TSPEAR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1335A>G r.(?) p.(=) - likely benign g.45945537T>C - TSPEAR(NM_001272037.1):c.1131A>G (p.E377=) - TSPEAR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1515G>A r.(?) p.(=) - likely benign g.45941817C>T - TSPEAR(NM_001272037.1):c.1311G>A (p.S437=) - TSPEAR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1566+5G>A r.spl? p.? - likely benign g.45941761C>T - TSPEAR(NM_001272037.1):c.1362+5G>A - TSPEAR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 10 c.1675_1676del r.(?) p.(Tyr559Cysfs*134) - pathogenic g.45929160_45929161del - - - TSPEAR_000039 - MORL Deafness Variation Database, PubMed: Sloan-Heggen 2016 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+/+ 10 c.1726_1728delinsTT r.(?) p.(Val576Leufs*38) - pathogenic g.45929108_45929110delinsAA - - - TSPEAR_000038 - MORL Deafness Variation Database, PubMed: Delmaghani 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.1746C>T r.(?) p.(=) - likely benign g.45929090G>A - TSPEAR(NM_001272037.1):c.1542C>T (p.L514=) - TSPEAR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1755-7C>T r.(=) p.(=) - likely benign g.45924771G>A - TSPEAR(NM_001272037.1):c.1551-7C>T - TSPEAR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 11 c.1826G>A r.(?) p.(Arg609His) - likely pathogenic g.45924693C>T - - - TSPEAR_000037 - MORL Deafness Variation Database, PubMed: Fromer 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
?/. - c.1879G>A r.(?) p.(Val627Met) - VUS g.45919797C>T - TSPEAR(NM_144991.2):c.1879G>A (p.(Val627Met)) - TSPEAR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1915G>A r.(?) p.(Asp639Asn) - VUS g.45919761C>T - TSPEAR(NM_001272037.1):c.1711G>A (p.D571N) - TSPEAR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend