Full data view for gene GCDH

Variant classification: please note that where there are several records of the same variant, classification of that variant
may differ between records depending on the reporting publication or the submitter's opinion. For the curator’s opinion on
the classification, please view the SUMMARY record or the concluded functional effect (value in column Effect after the /).
Information The variants shown are described using the NM_000159.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
Legend   How to query  

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     
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tang 2000 - - Germline - 1 - - - DNA SSCA - - GA1 11058907-FamW3II.1 PubMed: Tang 2000 Family: one healthy brother F yes China - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 unaffected carrier PubMed: Tang 2000 - - Germline/De novo (untested) - 1 - - - DNA SSCA - - - - PubMed: Tang 2000 2nd chromosome is normal / unaffected carrier father of 11058907-FamW3II.1 M ? China - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 unaffected carrier PubMed: Tang 2000 - - Germline/De novo (untested) - 1 - - - DNA SSCA - - - - PubMed: Tang 2000 2nd chromosome is normal / unaffected carrier mother of 11058907-FamW3II.1 F ? China - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tang 2000 - - Germline - 1 - - - DNA SSCA - - GA1 11058907-FamMII.1 PubMed: Tang 2000 Family: One affected brother (FamMII.2) M ? China - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tang 2000 - - Germline - 1 - - - DNA SSCA - - GA1 11058907-FamMII.2 PubMed: Tang 2000 Family: one affected brother (FamMII.1) M ? China - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 unaffected carrier PubMed: Tang 2000 - - Germline/De novo (untested) - 1 - - - DNA SSCA - - - - PubMed: Tang 2000 2nd chromosome is normal / unaffected carrier mother of 11058907-FamMII.1 and 11058907-FamMII.2 F ? China - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Lin 2002 - - Germline/De novo (untested) - 1 - - - DNA SEQ - - GA1 - PubMed: Lin 2002 brother of 12210585-Fam1(Pat.2) M ? Taiwan - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Lin 2002 - - Germline/De novo (untested) - 1 - - - DNA SEQ - - GA1 - PubMed: Lin 2002 sister of 12210585-Fam1(Pat.1), prenatal analysis F ? Taiwan - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Lin 2002 - - Germline/De novo (untested) - 1 - - - DNA SEQ - - GA1 - PubMed: Lin 2002 - M no Taiwan - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Bijarnia 2008, PubMed: Estrella 2014 - - Germline/De novo (untested) - 1 - - - DNA ? - - GA1 18683078-Case 2 PubMed: Bijarnia 2008,PubMed: Estrella 2014 This Patient is described by Estrella 2014 as well (24970580-GA1 Born 2000); Elevated glutarylcarnitine in newborn screening, but resample level below established cut-off --> diagnosis at birth missed M ? (Australia) - - - - - 1 Katrin Hinderhofer
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Mushimoto 2011 - - Germline/De novo (untested) - - - - - DNA SEQ blood and skin - GA1 21176883-Case 13 PubMed: Mushimoto 2011 Died because of airway obstruction due to choking after infection F no Japan Japanese 03y09m - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Abdul Wahab 2016 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 27672653-Pat.1 PubMed: Abdul Wahab 2016 - M no Malaysia Chinese - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Abdul Wahab 2016 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 27672653-Pat.6 PubMed: Abdul Wahab 2016 - F no Malaysia Malay - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Hsieh 2008 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 18285246-Case 2 PubMed: Hsieh 2008, PubMed: Lee 2013 The same Patient is described later by Lee 2013 again (23104440-No.1); Diagnosed as a newborn; Begin of treatment at age 01m05d F ? Taiwan Chinese - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Hsieh 2008, PubMed: Lee 2013 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 18285246-Case 1 PubMed: Hsieh 2008, PubMed: Lee 2013 The same Patient is described later again by Lee 2013 (No. 6); Diagnosed as a newborn; Begin of treatment at age 08d F ? Taiwan Chinese - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Hsieh 2008 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 18285246-Case 4 PubMed: Hsieh 2008, PubMed: Lee 2013 The same Patient is described later again by Lee 2013 (23104440-No.3); Diagnosed by newborn screening; Begin of treatment at age 01m04d F ? Taiwan Chinese - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Shi 2014 - - Germline - - - - - DNA SEQ blood - GA1 25297592-Elder sister PubMed: Shi 2014 - F ? China - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Shi 2014 - - Germline - - - - - DNA SEQ blood - GA1 25297592-Younger sister PubMed: Shi 2014 - F ? China - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Lee 2013 - - Germline/De novo (untested) - - - - - ? ? - - GA1 23104440-No.5 PubMed: Lee 2013 Diagnosed as a newborn; Begin of treatment at age 08d M ? (Taiwan) - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372- Case1 PubMed: Tsai 2017 Diagnosed by newborn Screening; Begin of treatment at age 10d with good compliance F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372- Case2 PubMed: Tsai 2017 Diagnosed by newborn Screening; Begin of treatment at age 09d with good compliance F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372- Case4 PubMed: Tsai 2017 Diagnosed by newborn screening; Begin of treatment at age 07d with good compliance F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372-Case5 PubMed: Tsai 2017 Diagnosed by newborn screening; Begin of treatment at age 08d with good compliance F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372-Case7 PubMed: Tsai 2017 Diagnosed by newborn screening; Begin of treatment at age 08d with poor compliance; Died unexpectatly at local hospital F ? Taiwan - 01y - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372-Case8 PubMed: Tsai 2017 Diagnosed by newborn screening; Begin of treatment at age 09d with poor compliance M ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372-Case9 PubMed: Tsai 2017 Diagnosed by newborn screening; Begin of treatment at age 09d with poor compliance F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372-Case10 PubMed: Tsai 2017 Diagnosed clinically (at age 14y); Begin of treatment at age 14y02m F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Chen 2011 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 21811973-Pat5 PubMed: Chen 2011 - M ? China - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Shu 2003 - - Germline/De novo (untested) - - - - - ? PCR, SEQ - - GA1 14691600-Pat4 PubMed: Shu 2003 Family: two siblings, one affected (Pat5); Begin of treatment at age 08m M no Taiwan - 00y10m - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown - pathogenic (recessive) g.13010280A>C g.12899466A>C IVS10-2A>C - GCDH_000137 - PubMed: Shu 2003 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ blood - GA1 14691600-Pat5 PubMed: Shu 2003 Family: two siblings, one affected (Pat4); Parents refused any therapy M no Taiwan - - - - - 1 Isabelle Rinke
+/+ 11i c.1244-2A>C r.spl p.? Unknown ACMG pathogenic g.13010280A>C g.12899466A>C - - GCDH_000137 ACMG/ACGS: PS4_Moderate, PM3_Very Strong, PP4_Moderate, PVS1 (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1244-2A>C r.spl? p.? Parent #2 - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: E 2021 - - Germline - - - - - DNA PCR, SEQ peripheral blood - GA1 34306040-No.8 PubMed: E 2021 - F ? China - - - - (Boyet al.,2017b):(1)lys-free,tryp-reduced aminoacid supplement up to6y;(2)After6y,lowlys content natural protein diet avoiding lys-rich foods;(3)Lifelong carnitine supplementation. Emergency treatment requires specialized nutritional products&medication 1 Sabrina Oeser
+/+ 11 c.1244-2A>C r.spl? p.? Parent #2 - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: E 2021 - - Germline - - - - - DNA PCR, SEQ peripheral blood - GA1 34306040-No.1 PubMed: E 2021 Sibling of individual 00457082 F - China - - - - - 1 Sabrina Oeser
+/+ 11 c.1244-2A>C r.spl? p.? Parent #2 - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: E 2021 - - Germline - - - - - DNA PCR, SEQ peripheral blood - GA1 34306040-No.2 PubMed: E 2021 Sibling of individual 00457081 ? ? China - - - - - 1 Sabrina Oeser
+/+ 11i c.1244-2A>C r.spl? p.? Parent #2 - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Shi 2018 - - Germline - - - - - DNA SEQ blood - GA1 30512148_Ped1_Pat PubMed: Shi 2018 - - - China - - - - - 1 Alexandra Tibelius
+/+ 11i c.1244-2A>C r.spl? p.? Parent #2 - pathogenic (recessive) g.13010280A>C g.12899466A>C - - GCDH_000137 - PubMed: Shi 2018 - - Germline - - - - - DNA SEQ blood - GA1 30512148_Ped2_Pat PubMed: Shi 2018 - - - China - - - - - 1 Alexandra Tibelius
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.