Full data view for gene HMGCL

Information The variants shown are described using the NM_000191.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.109G>T r.[109c>u,61_144del] p.[Glu37*,Val21_Lys48del] Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Pie 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - HMGCLD Pat1 PubMed: Pie 1997 - M no Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.[109c>u,61_144del] p.[Glu37*,Val21_Lys48del] Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Pie 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - HMGCLD Pat2 PubMed: Pie 1997 - F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #2 - pathogenic (recessive) g.24147035C>A - E37X - HMGCL_000024 - PubMed: Vargas 2008 - - Germline - - - - - DNA SEQ - - HMGCLD PatRL PubMed: Vargas 2008 - M - Brazil Portugal - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #2 - pathogenic (recessive) g.24147035C>A - E37X - HMGCL_000024 - PubMed: Vargas 2008 - - Germline - - - - - DNA SEQ - - HMGCLD PatVO PubMed: Vargas 2008 - M - Brazil Portugal - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - E37X - HMGCL_000024 - PubMed: Vargas 2008 - - Germline - - - - - DNA SEQ - - HMGCLD PatES PubMed: Vargas 2008 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic g.24147035C>A - - - HMGCL_000024 unknown variant 2nd chromosome; HMGCL activity 0.08 PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat1 PubMed: Cardoso 2004 - M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat2 PubMed: Cardoso 2004 - M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat3 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.08 PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat4 PubMed: Cardoso 2004 family, 3 affected F - Portugal - - - - - 3 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat5 PubMed: Cardoso 2004 sib M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat6 PubMed: Cardoso 2004 relative M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.00 PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat7 PubMed: Cardoso 2004 - M - Portugal - 00y01m - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.07 (compound heterozygous) PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat8 PubMed: Cardoso 2004 - F - Portugal - 06y - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.00 (compound heterozygous) PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat9 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat10 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat11 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.[109c>u,61_144del] p.[Glu37*,Val21_Lys48del] Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Puisac 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD PatPJG PubMed: Puisac 2005 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37Ter) Both (homozygous) - pathogenic (recessive) g.24147035C>A g.23820545C>A - - HMGCL_000024 - PubMed: Koling 2000, PubMed: Grunert 2017 - - Germline - - - - - DNA SEQ - - HMGCLD Pat17 PubMed: Grunert 2017 - M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Unknown - pathogenic g.24147035C>A - HMGCL(NM_000191.3):c.109G>T (p.E37*) - HMGCL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.109G>T r.(?) p.(Glu37*) Both (homozygous) ACMG pathogenic (recessive) g.24147035C>A g.23820545C>A - - HMGCL_000024 - PubMed: Grünert 2017 PubMed: Muñoz-Bonet 2017 PubMed: Puisac 2013 ClinVar-195033 rs763494292 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCLD 3bINP-042 PubMed: Vela-Amieva 2024 Familial case (brother affected: died at 09m) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
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