Full data view for gene MAT1A

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

38 entries on 1 page. Showing entries 1 - 38.
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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     
-?/. - c.-153C>T r.(=) p.(=) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
-?/. - c.-153C>T r.(=) p.(=) Both (homozygous) - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.25T>C r.(?) p.(Cys9Arg) Unknown - VUS g.82049155A>G - MAT1A(NM_000429.3):c.25T>C (p.(Cys9Arg)) - MAT1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92-9C>G r.(=) p.(=) Unknown - benign g.82045354G>C g.80285598G>C MAT1A(NM_000429.3):c.92-9C>G - MAT1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92-6G>A r.(=) p.(=) Unknown - likely benign g.82045351C>T - MAT1A(NM_000429.3):c.92-6G>A - MAT1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205G>T r.(?) p.(Gly69Cys) Unknown - VUS g.82043759C>A - - - MAT1A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242G>A r.(?) p.(Arg81Gln) Unknown - VUS g.82043722C>T - MAT1A(NM_000429.3):c.242G>A (p.(Arg81Gln)) - MAT1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292G>C r.(?) p.(Gly98Arg) Unknown - VUS g.82043672C>G - - - MAT1A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293-6G>A r.(=) p.(=) Unknown - likely benign g.82040554C>T - MAT1A(NM_000429.2):c.293-6G>A - MAT1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426T>C r.(?) p.(Ala142=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426T>C r.(?) p.(Ala142=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Thr143=) Unknown - likely benign g.82040049G>A - MAT1A(NM_000429.2):c.429C>T (p.T143=) - MAT1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(Arg163Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533C>T r.(?) p.(Pro178Leu) Unknown - VUS g.82039945G>A g.80280189G>A - - MAT1A_000024 - PubMed: Wang 2019 - - Germline - 1/14 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+?/. - c.572_592dup r.(?) p.(Asp191_Pro197dup) Unknown - likely pathogenic g.82036309_82036329dup g.80276553_80276573dup - - MAT1A_000023 - PubMed: Wang 2019 - - Germline - 1/14 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
?/. - c.631G>A r.(?) p.(Glu211Lys) Unknown - VUS g.82036269C>T - MAT1A(NM_000429.3):c.631G>A (p.(Glu211Lys)) - MAT1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705C>T r.(?) p.(Tyr235=) Unknown - likely benign g.82036195G>A - MAT1A(NM_000429.2):c.705C>T (p.Y235=) - MAT1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.706C>A r.(?) p.(Leu236Met) Unknown - VUS g.82036194G>T - MAT1A(NM_000429.3):c.706C>A (p.(Leu236Met)) - MAT1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.776C>T r.(?) p.(Ala259Val) Unknown - pathogenic g.82034948G>A g.80275192G>A 776G>T (A259V) - MAT1A_000022 - PubMed: Wang 2019 - - Germline - 1/14 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. - c.790C>T r.(?) p.(Arg264Cys) Unknown - pathogenic g.82034934G>A g.80275178G>A - - MAT1A_000021 - PubMed: Wang 2019 - - Germline - 1/14 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
?/. - c.791G>A r.(?) p.(Arg264His) Unknown - VUS g.82034933C>T g.80275177C>T - - MAT1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.791G>A r.(?) p.(Arg264His) Unknown - pathogenic g.82034933C>T g.80275177C>T - - MAT1A_000006 - PubMed: Wang 2019 - - Germline - 10/14 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 10 Johan den Dunnen
+?/. - c.791G>A r.(?) p.(Arg264His) Parent #1 - likely pathogenic g.82034933C>T g.80275177C>T - - MAT1A_000006 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat39 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
-/. - c.870A>G r.(?) p.(Val290=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870A>G r.(?) p.(Val290=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.882T>C r.(?) p.(Ala294=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.882T>C r.(?) p.(Ala294=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.895C>T r.(?) p.(Arg299Cys) Unknown - pathogenic g.82034829G>A - MAT1A(NM_000429.2):c.895C>T (p.(Arg299Cys)) - MAT1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916G>C r.(?) p.(Val306Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952del r.(?) p.(Val318Phefs*49) Unknown - pathogenic g.82034410del g.80274654del - - MAT1A_000011 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - Hypermethioninemia due to adenosine kinase deficiency - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.1032G>A r.(?) p.(Glu344=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1070C>T r.(?) p.(Pro357Leu) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1070C>T r.(?) p.(Pro357Leu) Unknown - pathogenic g.82034291G>A - MAT1A(NM_000429.2):c.1070C>T (p.(Pro357Leu)) - MAT1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075G>A r.(?) p.(Val359Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1075G>A r.(?) p.(Val359Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1085+14C>T r.(=) p.(=) Unknown - benign g.82034262G>A g.80274506G>A MAT1A(NM_000429.3):c.1085+14C>T - MAT1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1131C>T r.(?) p.(Tyr377=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1165G>T r.(?) p.(Val389Phe) Unknown - VUS g.82033560C>A - MAT1A(NM_000429.3):c.1165G>T (p.(Val389Phe)) - MAT1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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