Full data view for gene SLC25A13

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

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Paternal (confirmed) - pathogenic g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 - PubMed: Woo 2014, Journal: Woo 2014 - - Germline yes - - - - 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
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Both (homozygous) - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 - PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline yes 10/314 chromosomes CTLN2 - - - DNA SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - 2 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #1 - pathogenic g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - - - SLC25A13_000021 not found in 5282 Chinese / 4456 Korean control chromosomes PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 1/2744 control chromosomes - - - DNA PCRlr - - Healthy/Control con PubMed: Tabata 2008, Journal: Tabata 2008 unaffected heterozygous carrier - - Japan - - - - - 1 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #2 - pathogenic g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat1 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #2 - pathogenic g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat2 PubMed: Ko 2007 - F - Korea - - - - - 1 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #2 - pathogenic g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - NICCD 17982687-Pat3 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #2 - pathogenic g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 - PubMed: Ko 2007 - - Germline yes - - - - DNA SEQ - - CTLN2 17982687-Pat5 PubMed: Ko 2007 - M - Korea - - - - - 1 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #1 - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 combination variants not reported, 6 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 30/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - 6 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #1 - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 combination variants not reported, 4 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 10/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 4 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #1 - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 combination variants not reported, 16 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 30/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - 16 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #1 - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 combination variants not reported, 2 heterozygous cases CTLN2 PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 2/314 chromosomes CTLN2 - - - DNA RT-PCR, SEQ - - CTLN2 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 2 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Parent #1 - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 combination variants not reported, 4 heterozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 30/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 4 Johan den Dunnen
+/. 16i c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5] r.1751_*971delins[NC_000007.13:g.118029055_118029746inv] p.Ala584ValfsTer2 Both (homozygous) - pathogenic (recessive) g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - IVS16ins3kb - SLC25A13_000021 2 homozygous cases NICCD PubMed: Tabata 2008, Journal: Tabata 2008 - - Germline - 30/478 chromosomes NICCD - - - DNA RT-PCR, SEQ - - NICCD patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Korea Asia-E - - - - 2 Johan den Dunnen
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