Full data view for gene POMT1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_007171.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.2167dup r.(?) p.(Asp723GlyfsTer8) Unknown - pathogenic g.134398416dup g.131523029dup POMT1(NM_001077365.2):c.2101dup (p.(Asp701GlyfsTer8)), POMT1(NM_001136113.1):c.2101dupG (p.D701Gfs*8), POMT1(NM_001136113.2):c.2101dupG (p.D701Gfs*8) - POMT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - PubMed: van Reeuwijk 2006 - - Germline - - - - - DNA SEQ - - WWS - PubMed: van Reeuwijk 2006 - - - Ireland - - - - - 1 Johan den Dunnen
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - - - - Germline - - - - - DNA SEQ - - WWS - - - M - United States - - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #2 - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 not in 210 control chromosomes (Nederland, Turkey) PubMed: Beltran-Valero de Bernabe 2002, PubMed: Akasaka Manya 2004 - - Germline - - - - - DNA SEQ, SSCA - - WWS - PubMed: Beltran-Valero de Bernabe 2002, PubMed: Akasaka Manya 2004 - F no Netherlands - - - - - 1 Johan den Dunnen
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup 2167dupG - POMT1_000013 - PubMed: van Reeuwijk 2006, PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat11, 19299310-Pat12 PubMed: van Reeuwijk 2006, PubMed: Messina 2008, PubMed: Mercuri 2009 - F - Italy - >17y - - - 2 Johan den Dunnen
-/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #2 - benign g.134398416dup g.131523029dup - - POMT1_000013 - PubMed: Manya 2008 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Manya 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Unknown - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - - - - Germline - - - - - DNA SEQ - - WWS - - - - - United States - - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #2 - pathogenic g.134398416dup g.131523029dup 2167insG - POMT1_000013 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - 1 Johan den Dunnen
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - PubMed: Vasjar, 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Vasjar, 2008 Cleft lip and palate M - - - 9m - - - 1 Rosário dos Santos
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #2 - pathogenic g.134398416dup g.131523029dup 2167_2168insG - POMT1_000013 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 - - no United States African - - - - 1 Rosário dos Santos
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Unknown - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - - - - Germline - - - - - DNA SEQ - - WWS - - - F - (United States) - - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Maternal (inferred) - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - - - - Germline - - - - - DNA PCR, SEQ - - MDC - - - - - United States Hispanic - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Maternal (confirmed) - pathogenic (recessive) g.134398416dup g.131523029dup 2167dupG - POMT1_000013 - PubMed: Wallace 2014 - - Germline yes - - - - DNA PCR, SEQ - - MDC Pat1 PubMed: Wallace 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United States white - - - - 2 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Maternal (confirmed) - pathogenic (recessive) g.134398416dup g.131523029dup 2167dupG - POMT1_000013 - PubMed: Wallace 2014 - - Germline yes - - - - DNA PCR, SEQ - - MDC Pat2 PubMed: Wallace 2014 brother M no United States white - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #2 - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - - - - Germline - - - - - DNA PCR, SEQ - - WWS - - - F - United States - - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Paternal (confirmed) - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - - - - Germline - - - - - DNA PCR, SEQ - - WWS - - - - - United States white - - - - 1 Tom Winder
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Unknown - pathogenic g.134398416dup g.131523029dup - - POMT1_000013 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup 2167dupG - POMT1_000013 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
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup 2167dupG - POMT1_000013 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic g.134398416dup g.131523029dup 2167dupG - POMT1_000013 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.2167dup r.(?) p.(Asp723GlyfsTer8) Unknown - VUS g.134398416dup g.131523029dup POMT1(NM_001077365.2):c.2101dup (p.(Asp701GlyfsTer8)), POMT1(NM_001136113.1):c.2101dupG (p.D701Gfs*8), POMT1(NM_001136113.2):c.2101dupG (p.D701Gfs*8) - POMT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2167dup r.(?) p.(Asp723GlyfsTer8) Unknown - pathogenic g.134398416dup g.131523029dup POMT1(NM_001077365.2):c.2101dup (p.(Asp701GlyfsTer8)), POMT1(NM_001136113.1):c.2101dupG (p.D701Gfs*8), POMT1(NM_001136113.2):c.2101dupG (p.D701Gfs*8) - POMT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #2 - likely pathogenic (recessive) g.134398416dup g.131523029dup - - POMT1_000013 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat17 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.2167dup r.(?) p.(Asp723Glyfs*8) Unknown - likely pathogenic g.134398416dup g.131523029dup - - POMT1_000013 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.2167dup r.(?) p.(Asp723Glyfs*8) Parent #1 - pathogenic (recessive) g.134398416dup g.131523029dup 2167dupG - POMT1_000013 - PubMed: Wallace 2014 - - Germline - - - - - DNA SEQ - - MDC Pat3 PubMed: Wallace 2014 2-generation family, 1 affected, unaffected parents F no United States white - - - - 1 Johan den Dunnen
+/. - c.2167dup r.(?) p.(Asp723GlyfsTer8) Parent #2 - pathogenic (recessive) g.134398416dup g.131523029dup - - POMT1_000013 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat49 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
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