Full data view for gene SLC25A13

Information The variants shown are described using the NM_014251.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.851_854del r.(?) p.(Met285ProfsTer2) Unknown - likely pathogenic g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 - PubMed: Wang 2019 - - Germline - 1/16 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - 9 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #2 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - 9 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Ohura 2001, OMIM:var0001 - - Germline - - - - - DNA SEQ - - NICCD - PubMed: Ohura 2001, OMIM:var0001 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Tamamori 2002, OMIM:var0001 - - Germline - - - - - DNA SEQ - - NICCD - PubMed: Tamamori 2002, OMIM:var0001 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - PubMed: Kobayashi 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN2 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Unknown - pathogenic g.95818685_95818688del g.96189373_96189376del 851GTATdel - SLC25A13_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CTLN2 - - - F - China - - - - - 1 Chao Liu
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 compound heterozygous case PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - China - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 compound heterozygous cases PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - 11 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - 11 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 compound heterozygous case PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Woo 2014, Journal: Woo 2014 - - Germline - - - - - DNA SEQ - - CTLN2 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 8 c.852_855del r.852_855del p.Met285Profs*2 Paternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851delGTAT - SLC25A13_000007 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 108/314 chromosomes CTLN2 - - - DNA, RNA RT-PCR, SEQ - - CTLN2 Pat919 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Maternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851delGTAT - SLC25A13_000007 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 108/314 chromosomes CTLN2 - - - DNA, RNA PCRlr, RT-PCR, SEQ - - CTLN2 Pat557 PubMed: Tabata 2008, Journal: Tabata 2008 - F no Japan - - - - partial liver transplantation from mother 1 Johan den Dunnen
+/. 9 c.852_855del r.852_855del p.Met285Profs*2 Maternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851delGTAT - SLC25A13_000007 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 108/314 chromosomes CTLN2 - - - DNA, RNA RT-PCR, SEQ - - CTLN2 Pat456 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat1 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat2 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat3 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Both (homozygous) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Yeh 2006 - - Germline yes - - - - DNA SEQ - - NICCD 16737877-Pat11 PubMed: Yeh 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat3 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat4 PubMed: Ko 2007 - F - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285Profs*2) Parent #1 - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - CTLN2 17982687-Pat6 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.852_855del p.Met285Profs*2 Maternal (confirmed) - pathogenic g.95818685_95818688del g.96189373_96189376del 851del4 - SLC25A13_000007 - Journal: Sheng 2006 P-18-24 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - NICCD Pat Journal: Sheng 2006 P-18-24 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Unknown - pathogenic g.95818685_95818688del g.96189373_96189376del SLC25A13(NM_001160210.2):c.852_855delTATG (p.M285Pfs*2) - SLC25A13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.852_855del r.(?) p.(Met285Profs*2) Unknown ACMG pathogenic (recessive) g.95818684_95818687del - 852_855delTATG - SLC25A13_000007 - PubMed: Togawa 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? NCU16 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285Profs*2) Paternal (confirmed) ACMG pathogenic (recessive) g.95818684_95818687del - 852_855delTATG - SLC25A13_000007 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU17 PubMed: Togawa 2016 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285Profs*2) Paternal (confirmed) ACMG pathogenic (recessive) g.95818684_95818687del - 852_855delTATG - SLC25A13_000007 - PubMed: Togawa 2016 - - Germline - - - - - DNA SEQ - - ? NCU15 PubMed: Togawa 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 247 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 4 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 8 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 17 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 4 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 3 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - 3 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Paternal (confirmed) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? WBCT170102 PubMed: Nguyen 2023 analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Viet Nam - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Nguyen 2023 - - Germline - 536/584 chromosomes CD cases - - - DNA PCR, SEQ - - ? WBCT210304 PubMed: Nguyen 2023 analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Viet Nam - - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 2 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 2 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 15 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 15 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 1 homozygous case CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 23 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 23 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 44 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 44 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 78 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 78 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 28 homozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 28 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 21 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 21 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 2 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 108/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 2 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 combination variants not reported, 2 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 2 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 1 homozygous case NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 1 Johan den Dunnen
+/. 9 c.852_855del r.851_854del p.Met285ProfsTer2 Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854delGTAT - SLC25A13_000007 4 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 193/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Viet Nam Asia-E - - - - 4 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 851_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 852_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Both (homozygous) - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 853_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 853_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat5 PubMed: Chen 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 853_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat6 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Parent #1 - pathogenic (recessive) g.95818685_95818688del g.96189373_96189376del 853_854del - SLC25A13_000007 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ - - ? Pat8 PubMed: Chen 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.852_855del r.(?) p.(Met285ProfsTer2) Unknown - pathogenic g.95818685_95818688del g.96189373_96189376del 852_855delTATG - SLC25A13_000007 - PubMed: Wang 2019 - - Germline - 3/16 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 3 Johan den Dunnen
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