Unique variants in gene MTMR14

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001077525.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/- 1 1i c.159+100T>C benign r.(=) p.(=) g.9691526T>C - - - MTMR14_000004 - PubMed: Tosch 2006 - - Germline - 0.09 - - - Johan den Dunnen
-/- 1 1i c.159+122A>G benign r.(=) p.(=) g.9691548A>G - - - MTMR14_000005 - PubMed: Tosch 2006 - - Germline - 0.05 - - - Johan den Dunnen
-/- 1 2i c.309-167T>C benign r.(?) p.(=) g.9703784T>C - 309-168T>C - MTMR14_000035 - PubMed: Tosch 2006 - rs4684648 Germline - 0.16 - - - Johan den Dunnen
-/- 1 3i c.418-177G>A benign r.(=) p.(=) g.9710226G>A - - - MTMR14_000007 - PubMed: Tosch 2006 - - Germline - 0.03 - - - Johan den Dunnen
-/- 1 3i c.418-96T>C benign r.(=) p.(=) g.9710307T>C - - - MTMR14_000008 - PubMed: Tosch 2006 - - Germline - 0.06 - - - Johan den Dunnen
-/- 1 3i c.418-24G>A benign r.(=) p.(=) g.9710379G>A - 418-24A>G - MTMR14_000009 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 4i c.494-84A>G benign r.(?) p.(=) g.9711032A>G - 494-85A>G - MTMR14_000036 - PubMed: Tosch 2006 - rs1021289763 Germline - 0.01 - - - Johan den Dunnen
-?/. 1 - c.626A>G likely benign r.(?) p.(Lys209Arg) g.9712803A>G - MTMR14(NM_001077525.2):c.626A>G (p.(Lys209Arg)) - MTMR14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 6i c.678-270A>G benign r.(=) p.(=) g.9714099A>G - - - MTMR14_000011 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 6i c.678-210A>G benign r.(=) p.(=) g.9714159A>G - - - MTMR14_000012 - PubMed: Tosch 2006 - - Germline - 0.03 - - - Johan den Dunnen
-/- 1 6i c.678-47T>G benign r.(=) p.(=) g.9714322T>G - - - MTMR14_000013 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 8i c.823-33A>T benign r.(=) p.(=) g.9719635A>T - - - MTMR14_000014 - PubMed: Tosch 2006 - - Germline - 0.02 - - - Johan den Dunnen
-/- 1 9i c.897+124del benign r.(?) p.(=) g.9719866del - 897+125delC - MTMR14_000034 - PubMed: Tosch 2006 - rs145599359 Germline - 0.03 - - - Johan den Dunnen
-/- 1 10i c.965-58G>A benign r.(=) p.(=) g.9726211G>A - 964-58G>A - MTMR14_000016 - PubMed: Tosch 2006 - - Germline - 0.001 - - - Johan den Dunnen
-/- 1 10i c.965-14C>T benign r.(=) p.(=) g.9726255C>T - 964-14C>T - MTMR14_000017 - PubMed: Tosch 2006 - - Germline - 0.001 - - - Johan den Dunnen
+?/. 1 11 c.988T>A likely pathogenic r.(?) p.Cys330Ser g.9726292T>A - - - MTMR14_000003 expression cloning; COS-1 cells normal localisation, phosphatase activity 23% PubMed: Tosch 2006 - - In vitro (cloned) - - - - - Johan den Dunnen
+?/. 2 11 c.1007G>A likely pathogenic r.(?) p.(Arg336Gln), p.Arg336Gln g.9726311G>A g.9684627G>A - - MTMR14_000001 not in 820 control chromosomes; carrier father unaffected, 1 more item PubMed: Tosch 2006, OMIM:var0001 - rs121434509 Germline, In vitro (cloned) - 1/50 cases CNM AvaII - - Johan den Dunnen
-/- 1 11i c.1050+61A>T benign r.(=) p.(=) g.9726415A>T - - - MTMR14_000018 - PubMed: Tosch 2006 - - Germline - 0.001 - - - Johan den Dunnen
-/- 1 11i c.1050+71G>C benign r.(=) p.(=) g.9726425G>C - 1051-147G>C - MTMR14_000020 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 11i c.1050+74C>G benign r.(=) p.(=) g.9726428C>G - - - MTMR14_000019 - PubMed: Tosch 2006 - - Germline - 0.001 - - - Johan den Dunnen
-/- 1 11i c.1051-57G>T benign r.(=) p.(=) g.9726515G>T - - - MTMR14_000021 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 12i c.1128-3C>T benign r.(=) p.(=) g.9726892C>T - - - MTMR14_000022 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 13i c.1164+37del benign r.(=?) p.(=) g.9726968del - 1164+36delG - MTMR14_000033 - PubMed: Tosch 2006 - rs373359960 Germline - 0.02 - - - Johan den Dunnen
-/- 1 13i c.1164+71G>C benign r.(=) p.(=) g.9727002G>C - - - MTMR14_000024 - PubMed: Tosch 2006 - - Germline - 0.22 - - - Johan den Dunnen
-/- 1 14i c.1236-96A>G benign r.(=) p.(=) g.9730284A>G - - - MTMR14_000025 - PubMed: Tosch 2006 - - Germline - 0.07 - - - Johan den Dunnen
-/- 1 14i c.1236-15G>A benign r.(=) p.(=) g.9730365G>A - - - MTMR14_000026 - PubMed: Tosch 2006 - - Germline - 0.02 - - - Johan den Dunnen
-/- 1 15i c.1294+84G>A benign r.(=) p.(=) g.9730522G>A - - - MTMR14_000027 - PubMed: Tosch 2006 - - Germline - 0.02 - - - Johan den Dunnen
-/- 1 15i c.1295-93T>G benign r.(=) p.(=) g.9730535T>G - 1294+97T>G - MTMR14_000028 - PubMed: Tosch 2006 - - Germline - 0.03 - - - Johan den Dunnen
-?/., -/. 3 16 c.1385A>G benign, likely benign r.(?) p.(Tyr462Cys) g.9730718A>G g.9689034A>G - - MTMR14_000002 expression cloning; COS-1 cells normal localisation, phosphatase activity 80% PubMed: Tosch 2006, OMIM:var0002, PubMed: Tosch 2006 - - De novo, Germline, In vitro (cloned) - 1/700 - - - Johan den Dunnen
-/- 1 15i c.1434-59G>T benign r.(=) p.(=) g.9731589G>T - - - MTMR14_000029 - PubMed: Tosch 2006 - - Germline - 0.02 - - - Johan den Dunnen
-/- 1 16i c.1434-4G>A benign r.(=) p.(=) g.9731644G>A - - - MTMR14_000030 - PubMed: Tosch 2006 - - Germline - 0.01 - - - Johan den Dunnen
-/- 1 17i c.1614-66C>T benign r.(=) p.(=) g.9739329C>T - - - MTMR14_000031 - PubMed: Tosch 2006 - - Germline - 0.03 - - - Johan den Dunnen
-/- 1 18i c.1770-66_1770-63del benign r.(=) p.(=) g.9743408_9743411del - 1760-62insGGAG - MTMR14_000032 - PubMed: Tosch 2006 - - Germline - 0.08 - - - Johan den Dunnen
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