Unique variants in the SYNE1 gene

Information The variants shown are described using the NM_182961.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1 4 c.190C>T - r.(?) p.(Leu64Phe) - - g.152526115G>A L64F Shafina-Nadiawati Abdul et al. (2017) SYNE1_000007 rs144313495 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.254G>T - r.(?) p.(Arg85Leu) - - g.152520514C>A R85L Shafina-Nadiawati Abdul et al. (2017) SYNE1_000005 rs74315418 1/9 - Nuur Athirah Binti Mohd Daud
?/. 1 9 c.736G>A - r.(?) p.(Ala246Thr) - ClinVar g.152505243C>T A246T Shafina-Nadiawati Abdul et al. (2017)dbSNP SYNE1_000008 rs1251834592 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 20 c.2201C>T - r.(?) p.(Pro734Leu) - - g.152462787G>A P734L Shafina-Nadiawati Abdul et al. (2017) SYNE1_000004 rs368462762 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 33 c.4262A>C - r.(?) p.(Lys1421Thr) - - g.152435989T>G K1421T Shafina-Nadiawati Abdul et al. (2017) SYNE1_000003 rs1603482879 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 41 c.5497C>G - r.(?) p.(Leu1833Val) - - g.152416940G>C L1833V Shafina-Nadiawati Abdul et al. (2017) SYNE1_000002 rs1194139877 1/9 - Nuur Athirah Binti Mohd Daud
?/. 1 116 c.21469C>T - r.(?) p.(Arg7157Cys) - ClinVar g.152224547G>A R7157C Shafina-Nadiawati Abdul et al. (2017)dbSNP SYNE1_000010 rs757688642 1 - Nuur Athirah Binti Mohd Daud
./. 1 - c.21904T>G - r.(?) p.(Phe7302Val) - ClinVar g.152219143A>C F7302fs dbSNP, ClinVar SYNE1_000011 rs2147377 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 119 c.21953C>A - r.(?) p.(Ala7318Glu) - - g.152219094G>T A7318E Shafina-Nadiawati Abdul et al. (2017) SYNE1_000006 - 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 129 c.23579G>A - r.(?) p.(Gly7860Glu) - - g.152176442C>T G7860E Shafina-Nadiawati Abdul et al. (2017) SYNE1_000009 - 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 132 c.23993G>A - r.(?) p.(Trp7998*) - - g.152155028C>T W7998* Shafina-Nadiawati Abdul et al. (2017) SYNE1_000001 - 1/9 - Nuur Athirah Binti Mohd Daud
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