Unique variants in the MATR3 gene

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.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-14781695_*7052201dup r.0? p.0? - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
+?/., ?/. 2 - c.-339+2T>A r.spl, r.spl? p.? - likely pathogenic, VUS g.138611841T>A g.139276152T>A MATR3(NM_199189.2):c.-339+2T>A - MATR3_000045 combination of variants not reported, VKGL data sharing initiative Nederland PubMed: Topf 2020 - - CLASSIFICATION record, Germline - 1/1001 cases - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 27 5 c.254C>G r.(?) p.(Ser85Cys) - pathogenic g.138643358C>G g.139307669C>G MATR3(NM_199189.2):c.254C>G (p.S85C) - MATR3_000001 mapped by linkage, not in 216 control chromosomes, not in 928 control chromosomes, 1 more item PubMed: Senderek 2009, OMIM:var0001 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_VUmc
-?/. 1 - c.265A>G r.(?) p.(Ile89Val) - likely benign g.138643369A>G g.139307680A>G - - MATR3_000005 - PubMed: Lin 2015, Journal: Lin 2015 - - Germline - 1/207 cases ALS, 3/1000 control chromosomes - - - Johan den Dunnen
-?/. 1 - c.747G>A r.(?) p.(Glu249=) - likely benign g.138643851G>A g.139308162G>A MATR3(NM_199189.2):c.747G>A (p.E249=) - MATR3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 5i c.913-2598T>C r.(=) p.(=) - benign g.138647766T>C g.139312077T>C - - MATR3_000003 - PubMed: Senderek 2009 - rs13178336 Germline - - - - - Johan den Dunnen
-/. 2 5, 5i c.913-2535G>A r.(=) p.(=) - benign g.138647829G>A g.139312140G>A - - MATR3_000002 - PubMed: Senderek 2009 - rs12186596 Germline - - - - - Johan den Dunnen
-?/. 1 - c.975-7T>C r.(=) p.(=) - likely benign g.138651379T>C g.139315690T>C MATR3(NM_199189.2):c.975-7T>C - MATR3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1130-5T>A r.spl? p.? - VUS g.138652737T>A g.139317048T>A MATR3(NM_199189.2):c.1130-5T>A - MATR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1132G>A r.(?) p.(Ala378Thr) - likely benign g.138652744G>A g.139317055G>A MATR3(NM_199189.2):c.1132G>A (p.A378T) - MATR3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1183-5G>A r.spl? p.? - likely benign g.138653280G>A g.139317591G>A MATR3(NM_001194954.1):c.1183-5G>A (p.?) - MATR3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.1602+6A>G r.(=) p.(=) - benign, likely benign g.138655196A>G g.139319507A>G MATR3(NM_199189.2):c.1602+6A>G - MATR3_000029 3 homozygous; Clinindb (India), 53 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs80036770 CLASSIFICATION record, Germline - 3/2793 individuals, 53/2793 individuals - - - VKGL-NL_AMC, Mohammed Faruq
-?/. 1 - c.1655G>T r.(?) p.(Cys552Phe) - likely benign g.138657639G>T g.139321950G>T MATR3(NM_199189.2):c.1655G>T (p.C552F) - MATR3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1893C>T r.(?) p.(Ser631=) - likely benign g.138658401C>T g.139322712C>T MATR3(NM_199189.2):c.1893C>T (p.S631=) - MATR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1944T>G r.(?) p.(Pro648=) - likely benign g.138658452T>G g.139322763T>G MATR3(NM_199189.2):c.1944_1945delTAinsGA (p.P648_N649=) - MATR3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1991A>C r.(?) p.(Glu664Ala) - likely benign, VUS g.138658499A>C g.139322810A>C MATR3(NM_199189.2):c.1991A>C (p.E664A) - MATR3_000006 VKGL data sharing initiative Nederland PubMed: Lin 2015, Journal: Lin 2015 - rs139589527 CLASSIFICATION record, Germline - 1/207 cases ALS - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.2047A>G r.(?) p.(Asn683Asp) ACMG VUS g.138658555A>G g.139322866A>G - - MATR3_000055 OMIM adult onset -> passt klinisch nicht!!! RS Abia: nicht in Befund - - - Germline - - - - - Andreas Laner
?/. 1 - c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA r.spl? p.? - VUS g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA g.139322969_139322970insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA 1 more item - MATR3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA r.spl? p.? - likely benign g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA g.139322969_139322970insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA 1 more item - MATR3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.2190G>A r.(?) p.(Ala730=) - likely benign g.138661170G>A g.139325481G>A MATR3(NM_199189.2):c.2190G>A (p.A730=) - MATR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2191T>C r.(?) p.(Leu731=) - likely benign g.138661171T>C - MATR3(NM_199189.2):c.2191T>C (p.L731=) - MATR3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2250C>T r.(?) p.(Asn750=) - likely benign g.138661230C>T - MATR3(NM_199189.2):c.2250C>T (p.N750=) - MATR3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2273C>G r.(?) p.(Thr758Arg) - likely benign, VUS g.138661253C>G g.139325564C>G MATR3(NM_199189.2):c.2273C>G (p.T758R) - MATR3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 2 - c.2360A>G r.(?) p.(Asn787Ser) - likely benign g.138661340A>G g.139325651A>G MATR3(NM_199189.2):c.2360A>G (p.N787S) - MATR3_000007 VKGL data sharing initiative Nederland PubMed: Lin 2015, Journal: Lin 2015 - rs148402819 CLASSIFICATION record, Germline - 1/207 cases ALS - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2400G>A r.(?) p.(Gly800=) - likely benign, VUS g.138661880G>A g.139326191G>A MATR3(NM_199189.2):c.2400G>A (p.G800=) - MATR3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.2504A>G r.(?) p.(Asn835Ser) - VUS g.138665044A>G g.139329355A>G MATR3(NM_001194954.1):c.2504A>G (p.(Asn835Ser)) - MATR3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2507A>C r.(?) p.(Lys836Thr) - VUS g.138665047A>C g.139329358A>C MATR3(NM_199189.2):c.2507A>C (p.K836T) - MATR3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2521C>T r.(?) p.(Arg841Cys) - VUS g.138665061C>T g.139329372C>T MATR3(NM_199189.2):c.2521C>T (p.R841C) - MATR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2525G>C r.(?) p.(Arg842Thr) - VUS g.138665065G>C g.139329376G>C MATR3(NM_199189.2):c.2525G>C (p.R842T) - MATR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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