Full data view for gene MATR3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_199189.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 mapped by linkage PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-Fam PubMed: Feit 1998 5-generation family, 47 affecteds - - United States white - - - - 35 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-IV.2 PubMed: Feit 1998 from large family M - United States white >56y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-IV.4 PubMed: Feit 1998 from large family M - United States white >48y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-IV.6 PubMed: Feit 1998 from large family M - United States white >65y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-IV.12 PubMed: Feit 1998 from large family M - United States white >50y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-IV.52 PubMed: Feit 1998 from large family M - United States white >60y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-IV.38 PubMed: Feit 1998 from large family F - United States white >72y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-V.12 PubMed: Feit 1998 from large family M - United States white >51y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-V.13 PubMed: Feit 1998 from large family M - United States white >42y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-V.14 PubMed: Feit 1998 from large family F - United States white >58y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-V.17 PubMed: Feit 1998 from large family M - United States white >52y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-V.18 PubMed: Feit 1998 from large family M - United States white >50y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 09837826-V.19 PubMed: Feit 1998 from large family F - United States white >47y - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-DM73.3 PubMed: Senderek 2009, OMIM:var0001 - - - United States white - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 928 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-DM73.4 PubMed: Senderek 2009, OMIM:var0001 - - - United States white - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-FamBG PubMed: Senderek 2009, OMIM:var0001 7-generation family, 19 affecteds - - Bulgaria - - - - - 9 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-IV.9 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.6 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.9 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.11 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.13 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.15 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.17 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.23 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.27 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. 5 c.254C>G r.(?) p.(Ser85Cys) Parent #1 - pathogenic g.138643358C>G g.139307669C>G - - MATR3_000001 not in 216 control chromosomes PubMed: Senderek 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ALS 19344878-V.30 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.254C>G r.(?) p.(Ser85Cys) Unknown - pathogenic g.138643358C>G - MATR3(NM_199189.3):c.254C>G (p.S85C) - MATR3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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