Full data view for 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.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 1i c.159+100T>C benign r.(=) p.(=) Unknown g.9691526T>C - - - MTMR14_000004 - PubMed: Tosch 2006 - - Germline - 0.09 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 1i c.159+122A>G benign r.(=) p.(=) Unknown g.9691548A>G - - - MTMR14_000005 - PubMed: Tosch 2006 - - Germline - 0.05 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 2i c.309-167T>C benign r.(?) p.(=) Unknown g.9703784T>C - 309-168T>C - MTMR14_000035 - PubMed: Tosch 2006 - rs4684648 Germline - 0.16 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 3i c.418-177G>A benign r.(=) p.(=) Unknown g.9710226G>A - - - MTMR14_000007 - PubMed: Tosch 2006 - - Germline - 0.03 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 3i c.418-96T>C benign r.(=) p.(=) Unknown g.9710307T>C - - - MTMR14_000008 - PubMed: Tosch 2006 - - Germline - 0.06 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 3i c.418-24G>A benign r.(=) p.(=) Unknown g.9710379G>A - 418-24A>G - MTMR14_000009 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 4i c.494-84A>G benign r.(?) p.(=) Unknown g.9711032A>G - 494-85A>G - MTMR14_000036 - PubMed: Tosch 2006 - rs1021289763 Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-?/. - c.626A>G likely benign r.(?) p.(Lys209Arg) Unknown g.9712803A>G - MTMR14(NM_001077525.2):c.626A>G (p.(Lys209Arg)) - MTMR14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6i c.678-270A>G benign r.(=) p.(=) Unknown g.9714099A>G - - - MTMR14_000011 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 6i c.678-210A>G benign r.(=) p.(=) Unknown g.9714159A>G - - - MTMR14_000012 - PubMed: Tosch 2006 - - Germline - 0.03 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 6i c.678-47T>G benign r.(=) p.(=) Unknown g.9714322T>G - - - MTMR14_000013 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 8i c.823-33A>T benign r.(=) p.(=) Unknown g.9719635A>T - - - MTMR14_000014 - PubMed: Tosch 2006 - - Germline - 0.02 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 9i c.897+124del benign r.(?) p.(=) Unknown g.9719866del - 897+125delC - MTMR14_000034 - PubMed: Tosch 2006 - rs145599359 Germline - 0.03 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 10i c.965-58G>A benign r.(=) p.(=) Unknown g.9726211G>A - 964-58G>A - MTMR14_000016 - PubMed: Tosch 2006 - - Germline - 0.001 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 10i c.965-14C>T benign r.(=) p.(=) Unknown g.9726255C>T - 964-14C>T - MTMR14_000017 - PubMed: Tosch 2006 - - Germline - 0.001 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
+?/. 11 c.988T>A likely pathogenic r.(?) p.Cys330Ser Unknown g.9726292T>A - - - MTMR14_000003 expression cloning; COS-1 cells normal localisation, phosphatase activity 23% PubMed: Tosch 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1007G>A - r.(?) p.(Arg336Gln) Paternal (confirmed) g.9726311G>A g.9684627G>A - - MTMR14_000001 not in 820 control chromosomes; carrier father unaffected PubMed: Tosch 2006, OMIM:var0001 - rs121434509 Germline - 1/50 cases CNM - 0 - DNA DHPLC, SEQ, Southern - - CNM-1 - Case5 PubMed: Zanotelli 1998 carrier father (no complaint myopathic signs) M - Brazil - >12y 0 - - 2 Johan den Dunnen
+?/. 11 c.1007G>A likely pathogenic r.(?) p.Arg336Gln Unknown g.9726311G>A - - - MTMR14_000001 expression cloning; COS-1 cells normal localisation, phosphatase activity 28% PubMed: Tosch 2006, OMIM:var0001 - - In vitro (cloned) - - AvaII 0 - - - - - - - - - - - - - - - - - - -
-/- 11i c.1050+61A>T benign r.(=) p.(=) Unknown g.9726415A>T - - - MTMR14_000018 - PubMed: Tosch 2006 - - Germline - 0.001 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 11i c.1050+71G>C benign r.(=) p.(=) Unknown g.9726425G>C - 1051-147G>C - MTMR14_000020 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 11i c.1050+74C>G benign r.(=) p.(=) Unknown g.9726428C>G - - - MTMR14_000019 - PubMed: Tosch 2006 - - Germline - 0.001 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 11i c.1051-57G>T benign r.(=) p.(=) Unknown g.9726515G>T - - - MTMR14_000021 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 12i c.1128-3C>T benign r.(=) p.(=) Unknown g.9726892C>T - - - MTMR14_000022 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 13i c.1164+37del benign r.(=?) p.(=) Unknown g.9726968del - 1164+36delG - MTMR14_000033 - PubMed: Tosch 2006 - rs373359960 Germline - 0.02 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 13i c.1164+71G>C benign r.(=) p.(=) Unknown g.9727002G>C - - - MTMR14_000024 - PubMed: Tosch 2006 - - Germline - 0.22 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 14i c.1236-96A>G benign r.(=) p.(=) Unknown g.9730284A>G - - - MTMR14_000025 - PubMed: Tosch 2006 - - Germline - 0.07 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 14i c.1236-15G>A benign r.(=) p.(=) Unknown g.9730365G>A - - - MTMR14_000026 - PubMed: Tosch 2006 - - Germline - 0.02 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 15i c.1294+84G>A benign r.(=) p.(=) Unknown g.9730522G>A - - - MTMR14_000027 - PubMed: Tosch 2006 - - Germline - 0.02 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 15i c.1295-93T>G benign r.(=) p.(=) Unknown g.9730535T>G - 1294+97T>G - MTMR14_000028 - PubMed: Tosch 2006 - - Germline - 0.03 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-?/. 16 c.1385A>G - r.(?) p.(Tyr462Cys) Unknown g.9730718A>G g.9689034A>G - - MTMR14_000002 - PubMed: Tosch 2006, OMIM:var0002 - - De novo - - - 0 - DNA DHPLC, SEQ - - CNM-1 - - - F - Brazil - >36y 0 - - 1 Johan den Dunnen
-/. 16 c.1385A>G benign r.(?) p.(Tyr462Cys) Parent #1 g.9730718A>G - - - MTMR14_000002 - PubMed: Tosch 2006 - - Germline - 1/700 - 0 - DNA SEQ, DHPLC, SSCA - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-?/. 16 c.1385A>G likely benign r.(?) p.(Tyr462Cys) Unknown g.9730718A>G - - - MTMR14_000002 expression cloning; COS-1 cells normal localisation, phosphatase activity 80% PubMed: Tosch 2006, OMIM:var0002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 15i c.1434-59G>T benign r.(=) p.(=) Unknown g.9731589G>T - - - MTMR14_000029 - PubMed: Tosch 2006 - - Germline - 0.02 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 16i c.1434-4G>A benign r.(=) p.(=) Unknown g.9731644G>A - - - MTMR14_000030 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 17i c.1614-66C>T benign r.(=) p.(=) Unknown g.9739329C>T - - - MTMR14_000031 - PubMed: Tosch 2006 - - Germline - 0.03 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/- 18i c.1770-66_1770-63del benign r.(=) p.(=) Unknown g.9743408_9743411del - 1760-62insGGAG - MTMR14_000032 - PubMed: Tosch 2006 - - Germline - 0.08 - 0 - DNA SEQ - - Healthy/Control 17008356-c PubMed: Tosch 2006 - - - Brazil - - 0 - - 1 Johan den Dunnen
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