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.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 1i c.159+100T>C r.(=) p.(=) Unknown - benign g.9691526T>C g.9649842T>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 r.(=) p.(=) Unknown - benign g.9691548A>G g.9649864A>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 r.(?) p.(=) Unknown - benign g.9703784T>C g.9662100T>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 r.(=) p.(=) Unknown - benign g.9710226G>A g.9668542G>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 r.(=) p.(=) Unknown - benign g.9710307T>C g.9668623T>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 r.(=) p.(=) Unknown - benign g.9710379G>A g.9668695G>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 r.(?) p.(=) Unknown - benign g.9711032A>G g.9669348A>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 r.(?) p.(Lys209Arg) Unknown - likely benign g.9712803A>G g.9671119A>G MTMR14(NM_001077525.2):c.626A>G (p.(Lys209Arg)) - MTMR14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6i c.678-270A>G r.(=) p.(=) Unknown - benign g.9714099A>G g.9672415A>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 r.(=) p.(=) Unknown - benign g.9714159A>G g.9672475A>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 r.(=) p.(=) Unknown - benign g.9714322T>G g.9672638T>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 r.(=) p.(=) Unknown - benign g.9719635A>T g.9677951A>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 r.(?) p.(=) Unknown - benign g.9719866del g.9678182del 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 r.(=) p.(=) Unknown - benign g.9726211G>A g.9684527G>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 r.(=) p.(=) Unknown - benign g.9726255C>T g.9684571C>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 r.(?) p.Cys330Ser Unknown - NA g.9726292T>A g.9684608T>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) - likely pathogenic 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 r.(?) p.Arg336Gln Unknown - NA g.9726311G>A g.9684627G>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 r.(=) p.(=) Unknown - benign g.9726415A>T g.9684731A>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 r.(=) p.(=) Unknown - benign g.9726425G>C g.9684741G>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 r.(=) p.(=) Unknown - benign g.9726428C>G g.9684744C>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 r.(=) p.(=) Unknown - benign g.9726515G>T g.9684831G>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
-?/. - c.1067C>T r.(?) p.(Thr356Met) Parent #1 - likely benign g.9726588C>T g.9684904C>T - - MTMR14_000040 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs183134138 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/- 12i c.1128-3C>T r.(=) p.(=) Unknown - benign g.9726892C>T g.9685208C>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 r.(=?) p.(=) Unknown - benign g.9726968del g.9685284del 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 r.(=) p.(=) Unknown - benign g.9727002G>C g.9685318G>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 r.(=) p.(=) Unknown - benign g.9730284A>G g.9688600A>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 r.(=) p.(=) Unknown - benign g.9730365G>A g.9688681G>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 r.(=) p.(=) Unknown - benign g.9730522G>A g.9688838G>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 r.(=) p.(=) Unknown - benign g.9730535T>G g.9688851T>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 - likely benign 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 r.(?) p.(Tyr462Cys) Parent #1 - benign g.9730718A>G g.9689034A>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 r.(?) p.(Tyr462Cys) Unknown - NA g.9730718A>G g.9689034A>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 r.(=) p.(=) Unknown - benign g.9731589G>T g.9689905G>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 r.(=) p.(=) Unknown - benign g.9731644G>A g.9689960G>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 r.(=) p.(=) Unknown - benign g.9739329C>T g.9697645C>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
-?/. - c.1614-4C>T r.spl? p.? Unknown - likely benign g.9739391C>T - MTMR14(NM_022485.4):c.1434-4083C>T - MTMR14_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 18i c.1770-66_1770-63del r.(=) p.(=) Unknown - benign g.9743408_9743411del g.9701724_9701727del 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
?/. - c.1790G>A r.(?) p.(Arg597Gln) Unknown - VUS g.9743494G>A - MTMR14(NM_001077525.2):c.1790G>A (p.(Arg597Gln)) - CPNE9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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