Full data view for gene PCCB

Information The variants shown are described using the NM_000532.4 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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     
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Maternal (confirmed) - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Lamhonwah 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 02249848-539 PubMed: Lamhonwah 1990 - - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Lamhonwah 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 02249848-453CE PubMed: Lamhonwah 1990 - - - - white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Lamhonwah 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 02249848-500LS PubMed: Lamhonwah 1990 - - - - white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Lamhonwah 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 02249848-3088JL PubMed: Lamhonwah 1990 - - - - white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccBC519 PubMed: Tahara 1990 - - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccBC534 PubMed: Tahara 1990 - - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccBC1747 PubMed: Tahara 1990 - - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC467 PubMed: Tahara 1990 - - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 unknown variant 2nd chromosome PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC543 PubMed: Tahara 1990 - - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC572 PubMed: Tahara 1990 sib of 02154743-pccC576 - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC572 PubMed: Tahara 1990 sib of 02154743-pccC576 - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC756 PubMed: Tahara 1990 sib of 02154743-pccC572 - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC756 PubMed: Tahara 1990 sib of 02154743-pccC572 - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Tahara 1990 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, Southern - - acidemia, propionic 02154743-pccC1752 PubMed: Tahara 1990 - - - (United States) white - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.(?) Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Gravel 1994 - - Germline - - - - - DNA SEQ - - acidemia, propionic 08023851-500 PubMed: Gravel 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.(?) Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Gravel 1994 - - Germline - - - - - DNA SEQ - - acidemia, propionic 08023851-3138 PubMed: Gravel 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.(?) Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Gravel 1994 - - Germline - - - - - DNA SEQ - - acidemia, propionic 08023851-3138 PubMed: Gravel 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.(?) Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Gravel 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - acidemia, propionic 08023851-539 PubMed: Gravel 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-ALT PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-ALT PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-CBV PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-CBV PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-MRA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-MRA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-LMC PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-LMC PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-DTV PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #2 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-DTV PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-LGA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-JGG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-FM PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-VMP PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-AJA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-GA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-EAC PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-PPM PubMed: Rodriguez-Pombo 1998 - - - Ecuador - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-PVD PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1225_1227del p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA - - PCCB_000006 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-MV PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA Ins.del - PCCB_000006 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-16787 PubMed: Perez 2003 - - - Spain Basque - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.1218_1231delinsuagagcacagga p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA Ins.del - PCCB_000006 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-14935 PubMed: Perez 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218del14ins12 - PCCB_000006 - PubMed: Perez 2010 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Perez 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218del14ins12 - PCCB_000006 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218del14ins12 - PCCB_000006 - PubMed: Perez-Cerda 1994 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Perez-Cerda 1994 - - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1218_1231delinsTAGAGCACAGGA r.(?) p.fs* Parent #1 - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA 1218del14ins12 - PCCB_000006 - Rodriguez-Pombo 2000 JIMD 23 p92 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? Rodriguez-Pombo 2000 JIMD 23 p92 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1218_1231delinsTAGAGCACAGGA r.(?) p.(Gly407ArgfsTer14) Both (homozygous) - pathogenic g.136046016_136046029delinsTAGAGCACAGGA g.136327174_136327187delinsTAGAGCACAGGA c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA - PCCB_000006 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat81 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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