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_000159.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
?/+ 8 c.743C>T r.(?) p.(Pro248Leu) Unknown - VUS g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Paternal (confirmed) - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - PubMed: Zschocke 2000 - - Germline - 1 - 0 - DNA DGGE, SEQ - - GA-1 - PubMed: Chalmers 2006 - F no Iraq - - 0 - - 1 Katrin Hinderhofer
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Unknown - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - PubMed: Zschocke 2000 - - Unknown - 1 - - - DNA SEQ, SSCA - - GA-1 - PubMed: Busquets 2000 - - no Italy - - - - - 1 Katrin Hinderhofer
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Both (homozygous) - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - PubMed: Zschocke 2000 - - Unknown - 1 - - - DNA ? - - GA-1 19433437-Case2 (Pat.2) PubMed: Harting 2009, PubMed: Boy 2017, PubMed: Boy 2018 The same patient is later described again by Boy 2017 (c1) and Boy 2018 (PID 10); Diagnosed by newborn screening F yes Germany Italian - 0 - - 1 Katrin Hinderhofer
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Both (homozygous) - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - DNA SEQ blood - GA-1 29201125-Pat1 PubMed: Pirzadeh 2017 - ? yes Iran Information can't be assigned to single patients (6 patients Turkish, 2 Persian, 1 Gliak, 1 Mazani, 1 Lor) - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Both (homozygous) - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - DNA SEQ blood - GA-1 29201125-Pat2 PubMed: Pirzadeh 2017 - ? yes Iran Information can't be assigned to single patients (6 patients Turkish, 2 Persian, 1 Gliak, 1 Mazani, 1 Lor) - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Both (homozygous) - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - DNA SEQ blood - GA-1 29201125-Pat3 PubMed: Pirzadeh 2017 - ? yes Iran Information can't be assigned to single patients (6 patients Turkish, 2 Persian, 1 Gliak, 1 Mazani, 1 Lor) - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Parent #1 - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? ? - - GA-1 29665094-PID22 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Parent #1 - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? ? - - GA-1 29665094-PID23 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Both (homozygous) - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? ? - - GA-1 29665094-PID45 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment M ? (Germany) - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Parent #2 - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? ? - - GA-1 29665094-PID75 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance treatment, but didn't receive emergency treatment M ? (Germany) - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Parent #1 - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? DGGE, SEQ - - GA-1 15505400-No number (6) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten ? ? Ireland - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Parent #1 - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? DGGE, SEQ - - GA-1 15505400-No number (7) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten ? - Ireland - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Parent #1 - pathogenic (recessive) g.13007126C>T g.12896312C>T - - GCDH_000077 - - - - Germline - - - 0 - ? DGGE, SEQ - - GA-1 15505400-No number (8) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten ? ? Ireland - - 0 - - 1 Isabelle Rinke
+/+ 8 c.743C>T r.(?) p.(Pro248Leu) Unknown ACMG pathogenic g.13007126C>T g.12896312C>T - - GCDH_000077 ACMG: PS3, PS4, PM2, PP1, PP2, PP3 (April 2019) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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