Transcript #00024087

Transcript name transcript variant 2
Gene name MTMR14 (myotubularin related protein 14)
Chromosome 3
Transcript - NCBI ID NM_001077525.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001070993.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

39 entries on 1 page. Showing entries 1 - 39.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/- 1i c.159+100T>C benign r.(=) p.(=)
-/- 1i c.159+122A>G benign r.(=) p.(=)
-/- 2i c.309-167T>C benign r.(?) p.(=)
-/- 3i c.418-177G>A benign r.(=) p.(=)
-/- 3i c.418-96T>C benign r.(=) p.(=)
-/- 3i c.418-24G>A benign r.(=) p.(=)
-/- 4i c.494-84A>G benign r.(?) p.(=)
-?/. - c.519T>A likely benign r.(?) p.(Asp173Glu)
-?/. - c.626A>G likely benign r.(?) p.(Lys209Arg)
-/- 6i c.678-270A>G benign r.(=) p.(=)
-/- 6i c.678-210A>G benign r.(=) p.(=)
-/- 6i c.678-47T>G benign r.(=) p.(=)
-/- 8i c.823-33A>T benign r.(=) p.(=)
-/- 9i c.897+124del benign r.(?) p.(=)
-?/. - c.899G>A likely benign r.(?) p.(Cys300Tyr)
-/- 10i c.965-58G>A benign r.(=) p.(=)
-/- 10i c.965-14C>T benign r.(=) p.(=)
+?/. 11 c.988T>A likely pathogenic r.(?) p.Cys330Ser
+?/. 11 c.1007G>A - r.(?) p.(Arg336Gln)
+?/. 11 c.1007G>A likely pathogenic r.(?) p.Arg336Gln
-/- 11i c.1050+61A>T benign r.(=) p.(=)
-/- 11i c.1050+71G>C benign r.(=) p.(=)
-/- 11i c.1050+74C>G benign r.(=) p.(=)
-/- 11i c.1051-57G>T benign r.(=) p.(=)
-/- 12i c.1128-3C>T benign r.(=) p.(=)
-/- 13i c.1164+37del benign r.(=?) p.(=)
-/- 13i c.1164+71G>C benign r.(=) p.(=)
-/- 14i c.1236-96A>G benign r.(=) p.(=)
-/- 14i c.1236-15G>A benign r.(=) p.(=)
-/- 15i c.1294+84G>A benign r.(=) p.(=)
-/- 15i c.1295-93T>G benign r.(=) p.(=)
-?/. 16 c.1385A>G - r.(?) p.(Tyr462Cys)
-/. 16 c.1385A>G benign r.(?) p.(Tyr462Cys)
-?/. 16 c.1385A>G likely benign r.(?) p.(Tyr462Cys)
-/- 15i c.1434-59G>T benign r.(=) p.(=)
-?/. - c.1434-4G>A likely benign r.spl? p.?
-/- 16i c.1434-4G>A benign r.(=) p.(=)
-/- 17i c.1614-66C>T benign r.(=) p.(=)
-/- 18i c.1770-66_1770-63del benign r.(=) p.(=)
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