Full data view for gene POMGNT1

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

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

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+/. 17i c.1539+1G>A r.spl p.? Unknown - pathogenic (recessive) g.46657769C>T g.46192097C>T IVS17+1G>A: Glu514read-through 526Stop/Leu472-His513del - POMGNT1_000002 Finnish Major/Founder MDDGA3(MEB) variant, causes splice defect, either exon 18 skipping or intron 18 inclusion - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1539+1G>A r.spl? p.? Unknown - pathogenic g.46657769C>T g.46192097C>T POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A - POMGNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1539+1G>A r.spl? p.? Unknown - pathogenic g.46657769C>T g.46192097C>T POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A - POMGNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1539+1G>A r.spl? p.? Unknown - pathogenic g.46657769C>T g.46192097C>T POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A - POMGNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat23 PubMed: Diesen 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat22 PubMed: Diesen 2004 - - - Estonia - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.[1414_1539del, 1539_1540ins(1539+1_?);1539+1g>a] p.[Leu472_His513del, Glu514Metfs*13] Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 unknown variant 2nd allele PubMed: Zhang 2003 - - Germline - - PmlI - - DNA, RNA RT-PCR, SEQ - - MEB 12849864-PatB PubMed: Zhang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - >07y - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.[1414_1539del, 1539_1540ins(1539+1_?);1539+1g>a] p.[Leu472_His513del, Glu514Metfs*13] Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 not in 246 control chromosomes PubMed: Yoshida 2001, PubMed: Manya 2008, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA RT-PCR, SEQ - - MEB 11709191-PatSA PubMed: Yoshida 2001, PubMed: Manya 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat26 PubMed: Diesen 2004 - - - United States - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat21 PubMed: Diesen 2004 - - - Norway - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat19 PubMed: Diesen 2004 - - - Sweden - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA RT-PCR, SSCA, SEQ - - MEB 15466003-Fams PubMed: Diesen 2004 18 affecteds 13 families (1 consanguineous, second-cousin parents); shared founder haplotype F;M - Finland - - - - - 18 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Vajsar 2006 - - Germline yes - PmlI - - DNA SSCA, SEQ - - MEB 16427280-PatK PubMed: Vajsar 2006 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United States - - - - - 2 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Vajsar 2006 - - Germline yes - PmlI - - DNA SEQ - - MEB 16427280-PatR PubMed: Vajsar 2006 PatR M - - - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Zhang 2003 - - Germline - - PmlI - - DNA SEQ - - MEB - PubMed: Zhang 2003 - - - - - >1y - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #2 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Zhang 2003 - - Germline - - PmlI - - DNA SEQ - - MEB - PubMed: Zhang 2003 - - - - - >1y - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Taniguchi 2003, PubMed: Manya 2003, OMIM:var0002 - - Germline - - PmlI - - DNA SEQ - - WWS - PubMed: Taniguchi 2003, PubMed: Manya 2003 - F - Japan American - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Taniguchi 2003, PubMed: Manya 2003, OMIM:var0002 - - Germline - - PmlI - - DNA SEQ - - MDC - PubMed: Taniguchi 2003, PubMed: Manya 2003 - F - Belgium - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat20 PubMed: Diesen 2004 - - - Sweden - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 founder haplotype PubMed: Diesen 2004, OMIM:var0002 - - Germline - - PmlI - - DNA, RNA RT-PCR, SSCA, SEQ - - MEB 15466003-Pat18 PubMed: Diesen 2004 - - - Finland - - - - - 1 Johan den Dunnen
-/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Parent #1 - benign g.46657769C>T g.46192097C>T - - POMGNT1_000002 found in 3/308 control chromosomes PubMed: Diesen 2004, OMIM:var0002 - - Germline - 3/308 PmlI - - DNA, RNA SSCA, SEQ - - Healthy/Control 15466003-con PubMed: Diesen 2004 - - - Finland - - - - - 3 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #2 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MDC Pat22/Pat38 PubMed: Godfrey 2007, PubMed: O'Grady 2016 - - - - - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MDC 17878207-Pat21 PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.(1414_1539del) p.(Leu472_His513del) Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS 17559086-Fam14 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.(1414_1539del) p.(Leu472_His513del) Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS 17559086-Fam15 PubMed: Bouchet 2007 2 aborted fetuses - - (France) - <00y00m00d - - - 2 Johan den Dunnen
+/. 17i c.1539+1G>A r.(1414_1539del) p.(Leu472_His513del) Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS 17559086-Fam16 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.1414_1539del p.Leu472_His513del Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Bouchet 2007 - - Germline - - - - - DNA, RNA SEQ - - LIS 17559086-Fam17 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.(Leu472_His513del) Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Teber 2008 - - Germline - - - - - DNA SEQ - - MEB 17881266-Pat2 PubMed: Teber 2008 younger sib M yes Taiwan - 06y - - - 1 Rosário dos Santos
+/. 17i c.1539+1G>A r.spl p.(Leu472_His513del) Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Teber 2008 - - Germline - - - - - DNA SEQ - - MEB 17881266-Pat1 PubMed: Teber 2008 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; intrafamilial clinical heterogeneity F yes Turkey - >14y - - - 2 Rosário dos Santos
+/. 17 c.1539+1G>A r.spl p.? Parent #2 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - - - - Germline - - - - - DNA PCR, SEQ - - MEB - - - - - United States - - - - - 1 Tom Winder
+/. 17i c.1539+1G>A r.spl p.? Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - - - - Germline - - - - - DNA PCR, SEQ - - MEB - - - F - Saudi Arabia Arab - - - - 1 Tom Winder
+/. 17i c.1539+1G>A r.spl p.(Leu472_His513del) Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Clement - - Germline - - - - - DNA SEQ - - MDC - PubMed: Clement 2008-Pat20 - - - - - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #2 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - - - - Germline - - - - - DNA PCR, SEQ - - MEB - - - - - United States - - - - - 1 Tom Winder
+/. 17i c.1539+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - - - - Germline - - tlwinder - - DNA PCR, SEQ - - MDC - - - F - United States white - - - - 1 Tom Winder
+/. 17i c.1539+1G>A r.spl p.? Unknown - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1539+1G>A r.spl p.? Parent #2 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Hehr 2007 - - Germline - - - - - DNA SEQ - - MEB 17906881-Pat1 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States California, south - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Both (homozygous) - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 - PubMed: Vajsar 2006 - - Germline - - - - - DNA SEQ - - MEB 16427280-PatL PubMed: Vajsar 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 17i c.1539+1G>A r.spl p.? Parent #1 - pathogenic g.46657769C>T g.46192097C>T - - POMGNT1_000002 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.1539+1G>A r.spl? p.? Unknown - likely pathogenic g.46657769C>T g.46192097C>T POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A - POMGNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1539+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.46657769C>T - - - POMGNT1_000002 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_32 PubMed: Makrythanasis 2014 family, 3 affected - yes Jordan - - - - - 3 Johan den Dunnen
+?/. - c.1539+1G>A r.spl p.? Parent #1 - likely pathogenic g.46657769C>T g.46192097C>T IVS17+1G>A - POMGNT1_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 545 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1539+1G>A r.spl? p.? Parent #2 - likely pathogenic g.46657769C>T g.46192097C>T POMGNT1 mutation in intron 17 - POMGNT1_000002 probably c.1539+1G>A (IVS17+1G>A reference Taniguchi et al., 2007); heterozygous PubMed: Voglmeir 2011 - - Unknown ? - - - - DNA SEQ-NG blood - MDDGA3;MEB;WWS ? PubMed: Voglmeir 2011 - F - - - - - - - 1 LOVD
+?/. - c.1539+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.46657769C>T g.46192097C>T c1539+1G>A - POMGNT1_000002 - PubMed: Hoang 2011 - - Germline - - - - - DNA SEQ-NG blood - MDDGA3;MEB;WWS ? PubMed: Hoang 2011 - F - United States - - - - - 1 LOVD
+?/. - c.1539+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.46657769C>T g.46192097C>T POMGNT1 c.1539 + 1G?A (p.Leu472_His513del) - Finnish founder mutation - POMGNT1_000002 homozygous PubMed: Arvio 2019 - - Germline yes - - - - DNA ? - retrospective case series MDDGA3;MEB;WWS 1 PubMed: Arvio 2019 - F - Finland - - - - - 1 LOVD
+?/. - c.1539+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.46657769C>T g.46192097C>T POMGNT1 c.1539 + 1G?A (p.Leu472_His513del) - Finnish founder mutation - POMGNT1_000002 homozygous PubMed: Arvio 2019 - - Germline yes - - - - DNA ? - retrospective case series MDDGA3;MEB;WWS 2 PubMed: Arvio 2019 - F - Finland - - - - - 1 LOVD
+?/. - c.1539+1G>A r.spl? p.? Paternal (confirmed) - likely pathogenic g.46657769C>T g.46192097C>T POMGNT1 c.1539 + 1G?A (p.Leu472_His513del) - POMGNT1_000002 heterozygous PubMed: Borisovna 2019 - - Germline yes - - - - DNA ? - retrospective case series MDDGA3;MEB;WWS ? PubMed: Borisovna 2019 - M - - - - - - - 1 LOVD
+?/. - c.1539+1G>A r.spl? p.? Unknown - likely pathogenic g.46657769C>T g.46192097C>T POMGNT1 c.1539 + 1G>A (p.Leu472_His513del) - POMGNT1_000002 heterozygous PubMed: Peiris 2018 - - Unknown ? - - - - DNA SEQ blood - MDDGA3;MEB;WWS ? PubMed: Peiris 2018 - M - - - - - - - 1 LOVD
+/. - c.1539+1G>A r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.46657769C>T g.46192097C>T - - POMGNT1_000002 ACMG PVS1, PM2 PubMed: Jacquemin 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HYDRO Pat26 PubMed: Jacquemin 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Belgium - - - - - 1 Johan den Dunnen
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