Full data view for gene ZMPSTE24

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005857.4 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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     
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P3 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no France - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P5 /P6 PubMed: Navarro 2004, PubMed: Navarro 2005 2 affecteds ? no Netherlands - - - - - 2 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P7 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P9 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P8 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no France - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2005 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P11 PubMed: Navarro 2005 - ? no Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD P4 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2005 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD P10 PubMed: Navarro 2005 - ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2005 - rs137854889 Germline - - - - - DNA SEQ - - RD P12 PubMed: Navarro 2005 - ? - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Moulson 2006 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD 16297189.D PubMed: Moulson 2006 archived DNA (paraffin-embedded) ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Agarwal 2006 - rs137854889 Germline - - - - - DNA SEQ - - MAD ? PubMed: Agarwal 2006 - M - Australia - 37y - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Parent #1 - pathogenic g.40756551dup g.40290879dup 1085_1086insT - ZMPSTE24_000001 - PubMed: Yesil 2011, Yesil ESHG2009 P02.100 - rs137854889 Germline yes - - - - DNA SEQ - - Healthy/Control 14123par PubMed: Yesil 2011, Yesil ESHG2009 P02.100 2-generation family, unaffected first-cousin carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Li 2009 - rs137854889 Germline yes - - - - DNA SEQ - - Healthy/Control 20034068-Patp PubMed: Li 2009 2-generation family, unaffected carrier parents - - Canada Mennonite - - - - 2 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.Leu362Phefs*19 Parent #1 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Ahmad 2012 - rs137854889 Germline yes - - - - DNA SEQ - - Healthy/Control RD600.3p PubMed: Ahmad 2012 2-generation family, unaffected carrier parents - ? United States - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Moulson 2006 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD 16297189.A PubMed: Moulson 2006 father's maternal grandmother and mother's paternal granmother were sisters; unaffected heterozygous parents, 2 sisters and 2 brothers M yes Netherlands - - - - - 7 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 variants on different intron 4 alleles PubMed: Moulson 2006 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD 16297189.B PubMed: Moulson 2006 German origin; unaffected heterozygous father, mother and 2 brothers ? no United States white - - - - 5 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - Daumer-Haas ESHG2008 P03.072 - rs137854889 Germline - - - - - DNA SEQ, HD - - RD ? Daumer-Haas ESHG2008 P03.072 distant consanguinity parents; sister of G-30143 F yes (Germany) - 1d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - Daumer-Haas ESHG2008 P03.072 - rs137854889 Germline - - - - - DNA SEQ, HD - - RD ? Daumer-Haas ESHG2008 P03.072 distant consanguinity parents; bother of G-14852 M yes (Germany) - 1d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Kariminejad 2009 - rs137854889 Germline - - - - - DNA HD - - RD ? PubMed: Kariminejad 2009 related great-grandparents ? yes Iran - 0d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Morais 2009 - rs137854889 Germline - - - - - DNA HD - - RD ? PubMed: Morais 2009 - F no - white 9d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup 1085_1086insT - ZMPSTE24_000001 - PubMed: Yesil 2011, Yesil ESHG2009 P02.100 - rs137854889 Germline yes - - - - DNA SEQ - - RD 14123 PubMed: Yesil 2011 2-generation family, 1 affected M yes Turkey - 14d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Li 2009 - rs137854889 Germline yes - - - - DNA SEQ - - RD 20034068-Pat PubMed: Li 2009 2-generation family, 1 affected F - Canada Mennonite - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.Leu362Phefs*19 Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Ahmad 2012 - rs137854889 Germline yes - - - - DNA SEQ - - RD RD600.3 PubMed: Ahmad 2012 2-generation family, 1 affected, 1 possibly affected, 5 spontaneous abortions F ? United States - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P3 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no France - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P5 /P6 PubMed: Navarro 2004, PubMed: Navarro 2005 2 affecteds ? no Netherlands - - - - - 2 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P7 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P9 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2004, PubMed: Navarro 2005, OMIM:var0001 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P8 PubMed: Navarro 2004, PubMed: Navarro 2005 - ? no France - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Navarro 2005 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - MAD P11 PubMed: Navarro 2005 - ? no Netherlands - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 not in 200 control chromosomes PubMed: Agarwal 2003, OMIM:var0001 - rs137854889 Germline - - - - - DNA SEQ - - MAD MAD600 PubMed: Schrander-Stumpel 1992 - F - Belgium - 27y - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Parent #2 - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Shackleton 2005 - rs137854889 Germline - - - - - DNA SEQ - - ? ? PubMed: Shackleton 2005 - F no (United Kingdom (Great Britain)) - >2y - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Moulson 2006 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD 16297189.A PubMed: Moulson 2006 father's maternal grandmother and mother's paternal granmother were sisters; unaffected heterozygous parents, 2 sisters and 2 brothers M yes Netherlands - - - - - 7 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 variants on different intron 4 alleles PubMed: Moulson 2006 - rs137854889 Germline - - - - - DNA, RNA RT-PCR, SEQ - - RD 16297189.B PubMed: Moulson 2006 German origin; unaffected heterozygous father, mother and 2 brothers ? no United States white - - - - 5 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - Daumer-Haas ESHG2008 P03.072 - rs137854889 Germline - - - - - DNA SEQ, HD - - RD ? Daumer-Haas ESHG2008 P03.072 distant consanguinity parents; sister of G-30143 F yes (Germany) - 1d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.1085dup p.Leu362Phefs*19 Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - Daumer-Haas ESHG2008 P03.072 - rs137854889 Germline - - - - - DNA SEQ, HD - - RD ? Daumer-Haas ESHG2008 P03.072 distant consanguinity parents; bother of G-14852 M yes (Germany) - 1d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Kariminejad 2009 - rs137854889 Germline - - - - - DNA HD - - RD ? PubMed: Kariminejad 2009 related great-grandparents ? yes Iran - 0d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Morais 2009 - rs137854889 Germline - - - - - DNA HD - - RD ? PubMed: Morais 2009 - F no - white 9d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup 1085_1086insT - ZMPSTE24_000001 - PubMed: Yesil 2011, Yesil ESHG2009 P02.100 - rs137854889 Germline yes - - - - DNA SEQ - - RD 14123 PubMed: Yesil 2011 2-generation family, 1 affected M yes Turkey - 14d - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Li 2009 - rs137854889 Germline yes - - - - DNA SEQ - - RD 20034068-Pat PubMed: Li 2009 2-generation family, 1 affected F - Canada Mennonite - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.Leu362Phefs*19 Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - PubMed: Ahmad 2012 - rs137854889 Germline yes - - - - DNA SEQ - - RD RD600.3 PubMed: Ahmad 2012 2-generation family, 1 affected, 1 possibly affected, 5 spontaneous abortions F ? United States - - - - - 1 Johan den Dunnen
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Unknown - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD 2008-099-010 - - - - - - - - - - 1 Tom Winder
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam1 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam2 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam3 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam4 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam5 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam6 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam7 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam8 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Paternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam9 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - CNavarro, submitted - rs137854889 Germline - - - - - DNA SEQ - - RD ? CNavarro, submitted - M no - - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam1 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam2 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam3 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam4 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam5 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam6 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam7 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam8 - - - no (France) - - - - - 1 Claire Navarro
+/. 9 c.1085dup r.(?) p.(Leu362Phefs*19) Maternal (confirmed) - pathogenic g.40756551dup g.40290879dup - - ZMPSTE24_000001 - - - rs137854889 Germline - - - - - DNA SEQ - - RD Fam9 - - - no (France) - - - - - 1 Claire Navarro
+/. - c.1085dup r.(?) p.(Leu362PhefsTer19) Unknown - pathogenic g.40756551dup - ZMPSTE24(NM_005857.3):c.1085dupT (p.L362Ffs*19), ZMPSTE24(NM_005857.4):c.1085dup (p.(Leu362Phefs*19)), ZMPSTE24(NM_005857.5):c.1085dupT (p.L362Ffs*19) - ZMPSTE24_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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