All variants in the MAT1A gene

Information The variants shown are described using the NM_000429.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

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     
-?/. - c.-153C>T r.(=) p.(=) - likely benign g.82049332G>A g.80289576G>A - - MAT1A_000014 21 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11595587 Germline - 21/2794 individuals - 0 - Mohammed Faruq
-?/. - c.-153C>T r.(=) p.(=) - likely benign g.82049332G>A g.80289576G>A - - MAT1A_000014 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11595587 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-/. - c.92-9C>G r.(=) p.(=) - benign g.82045354G>C g.80285598G>C MAT1A(NM_000429.3):c.92-9C>G - MAT1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.293-6G>A r.(=) p.(=) - likely benign g.82040554C>T - MAT1A(NM_000429.2):c.293-6G>A - MAT1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.426T>C r.(?) p.(Ala142=) - benign g.82040052A>G g.80280296A>G MAT1A(NM_000429.3):c.426T>C (p.A142=) - MAT1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.426T>C r.(?) p.(Ala142=) - benign g.82040052A>G g.80280296A>G MAT1A(NM_000429.3):c.426T>C (p.A142=) - MAT1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.429C>T r.(?) p.(Thr143=) - likely benign g.82040049G>A - MAT1A(NM_000429.2):c.429C>T (p.T143=) - MAT1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.487C>T r.(?) p.(Arg163Trp) - VUS g.82039991G>A g.80280235G>A MAT1A(NM_000429.3):c.487C>T (p.R163W) - MAT1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.791G>A r.(?) p.(Arg264His) - VUS g.82034933C>T g.80275177C>T - - MAT1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.870A>G r.(?) p.(Val290=) - benign g.82034854T>C g.80275098T>C MAT1A(NM_000429.3):c.870A>G (p.V290=) - MAT1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.870A>G r.(?) p.(Val290=) - benign g.82034854T>C g.80275098T>C MAT1A(NM_000429.3):c.870A>G (p.V290=) - MAT1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.882T>C r.(?) p.(Ala294=) - benign g.82034842A>G g.80275086A>G MAT1A(NM_000429.3):c.882T>C (p.A294=) - MAT1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.882T>C r.(?) p.(Ala294=) - benign g.82034842A>G g.80275086A>G MAT1A(NM_000429.3):c.882T>C (p.A294=) - MAT1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.916G>C r.(?) p.(Val306Leu) - VUS g.82034808C>G g.80275052C>G MAT1A(NM_000429.3):c.916G>C (p.V306L) - MAT1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.952del r.(?) p.(Val318Phefs*49) - pathogenic g.82034410del g.80274654del - - MAT1A_000011 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.1032G>A r.(?) p.(Glu344=) - likely benign g.82034329C>T g.80274573C>T MAT1A(NM_000429.2):c.1032G>A (p.E344=) - MAT1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1070C>T r.(?) p.(Pro357Leu) - likely pathogenic g.82034291G>A g.80274535G>A - - MAT1A_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118204003 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1075G>A r.(?) p.(Val359Ile) - likely benign g.82034286C>T g.80274530C>T MAT1A(NM_000429.2):c.1075G>A (p.V359I), MAT1A(NM_000429.3):c.1075G>A (p.V359I) - MAT1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1075G>A r.(?) p.(Val359Ile) - VUS g.82034286C>T - MAT1A(NM_000429.2):c.1075G>A (p.V359I), MAT1A(NM_000429.3):c.1075G>A (p.V359I) - MAT1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1085+14C>T r.(=) p.(=) - benign g.82034262G>A g.80274506G>A MAT1A(NM_000429.3):c.1085+14C>T - MAT1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1131C>T r.(?) p.(Tyr377=) - benign g.82033594G>A g.80273838G>A MAT1A(NM_000429.3):c.1131C>T (p.Y377=) - MAT1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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