Full data view for gene SEPN1

NOTE: gene symbol was recently changed from SEPN1 to SELENON. This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_020451.2 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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     
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #1 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - CMYO4A;CFTD FamPatA1/Pat1 PubMed: Clarke 2006, PubMed: O'Grady 2016 2-generation family, 2 affected sisters, , unaffected heterozygous carrier parents F - Australia - - - - - 2 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - CMYO4A;CFTD FamPatA1/Pat1 PubMed: Clarke 2006, PubMed: O'Grady 2016 2-generation family, 2 affected sisters, , unaffected heterozygous carrier parents F - Australia - - - - - 2 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #1 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - ? 16365872.B3 PubMed: Clarke 2006 sister of 16365872.B4,B5 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - ? 16365872.B3 PubMed: Clarke 2006 sister of 16365872.B4,B5 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #1 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - CMYO4A;CFTD FamPatA2 PubMed: Clarke 2006 sister FamPatA1 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - CMYO4A;CFTD FamPatA2 PubMed: Clarke 2006 sister FamPatA1 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #1 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - ? 16365872.B4 PubMed: Clarke 2006 sister of 16365872.B3,B5 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - ? 16365872.B4 PubMed: Clarke 2006 sister of 16365872.B3,B5 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #1 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - ? 16365872.B5 PubMed: Clarke 2006 sister of 16365872.B3,B4 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.943c>a p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Clarke 2006, OMIM:var0008 - rs121908188 Germline - - -HaeIII - - DNA, RNA RT-PCR, SEQ - - ? 16365872.B5 PubMed: Clarke 2006 sister of 16365872.B3,B4 F - Australia - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Ferreiro 2004 - rs121908188 Germline - - - - - DNA SSCA, SEQ - - MYOP FamI PubMed: Ferreiro 2004 2-generation family, 2 affected (2M) M - Belgium - - - - - 2 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Ferreiro 2002, OMIM:var0008 - rs121908188 Germline - - - - - DNA SSCA, DHPLC, SEQ - - ? F7a PubMed: Ferreiro 2002 2-generation family, 2 affected brothers M - Belgium - - - - - 2 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Ferreiro 2002, OMIM:var0008 - rs121908188 Germline - - - - - DNA SSCA, DHPLC, SEQ - - ? F7b PubMed: Ferreiro 2002 brother of F7a M ? Belgium - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Ferreiro 2002, OMIM:var0008 - rs121908188 Germline - - - - - DNA SSCA, DHPLC, SEQ - - ? F8a PubMed: Ferreiro 2002 2-generation family, affected sister/brother F ? United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Ferreiro 2002, OMIM:var0008 - rs121908188 Germline - - - - - DNA SSCA, DHPLC, SEQ - - ? F8b PubMed: Ferreiro 2002 brother of F8a M ? United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (confirmed) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Ferreiro 2002, OMIM:var0008 - rs121908188 Germline - - - - - DNA SSCA, DHPLC, SEQ - - ? F9 PubMed: Ferreiro 2002 - F ? Germany - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (inferred) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Venance 2005, OMIM:var0008 - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? PubMed: Venance 2005 - M no Canada - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Maternal (confirmed) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Venance 2005, OMIM:var0008 - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? PubMed: Venance 2005 - M no Canada - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - Ferreiro et al. AJHG 71:739-749, 2002 - rs121908188 Germline - - - - - DNA SEQ - - ? ? Ferreiro AJHG 71:739-749, 2002 - F - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - F - (United States) - - - - - 1 Tom Winder
-/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #2 - benign g.26136244G>A g.25809753G>A - - SEPN1_000011 RNA fibroblast SEPN1 RNA level normal PubMed: Maiti 2009 - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? PubMed: Maiti 2009 - ? - - - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Schara 2008 - rs121908188 Germline - - - - - DNA SEQ - - RSMD Pat3 PubMed: Schara 2008 2-generation family, 2 affected sibs F - Germany - - - - - 2 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Schara 2008 - rs121908188 Germline - - - - - DNA SEQ - - RSMD Pat4 PubMed: Schara 2008 sibling of Pat3 F - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.Gly315Ser Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Schara 2008 - rs121908188 Germline - - - - - DNA SEQ - - RSMD Pat6 PubMed: Schara 2008 - F - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - F - (United States) - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - CMYO4A;CFTD ? - - - - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) (.(Gly315Ser) Maternal (confirmed) - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - Germany - - - - - 1 Wolfram Kress
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #1 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #1 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #1 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #2 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #1 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #2 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #1 - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - Germany - - - - - 1 Wolfram Kress
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA PCR, SEQ - - RSMD ? - - F - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #2 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA PCR, SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - ? - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Maternal (inferred) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Maternal (inferred) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (inferred) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (inferred) - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - Switzerland - - - - - 1 Shu Yau
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (confirmed) - likely pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (confirmed) - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Unknown - - - - - DNA PCR, SEQ - - MYOP ? - - - - Sweden - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - from website {DBsub-Emory} - rs121908188 Unknown - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Paternal (inferred) - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA PCR, SEQ - - RSMD ? - - F - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Maternal (inferred) - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA PCR, SEQ - - RSMD ? - - F - United States - - - - - 1 Tom Winder
+/. 7 c.943G>A r.(?) p.(Gly315Ser) Parent #2 - pathogenic g.26136244G>A g.25809753G>A - - SEPN1_000011 - - - rs121908188 Germline - - - - - DNA SEQ-NG - - MYOP ? - - F - United States - - - - - 1 Tom Winder
+/. - c.943G>A r.(?) p.? Unknown - pathogenic g.26136244G>A g.25809753G>A SEPN1(NM_020451.2):c.943G>A (p.(Gly315Ser)) - SEPN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.943G>A r.(?) p.(Gly315Ser) Unknown - likely pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 combination of variants not reported PubMed: Villar-Quiles 2020 - rs121908188 Germline - 17/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 6 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Parent #1 - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat64 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Unknown - pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 no variant 2nd chromosome after targeted sequencing; no segregation analysis PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NMD Pat87 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat2 PubMed: Bouman 2023 - F - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat3 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Parent #1 ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat4 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat6 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Parent #1 ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat8 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat10 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
+/. - c.943G>A r.(?) p.(Gly315Ser) Both (homozygous) ACMG pathogenic (recessive) g.26136244G>A g.25809753G>A - - SEPN1_000011 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat11 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
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