Full data view for gene HMGCL

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

6 entries on 1 page. Showing entries 1 - 6.
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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.914_915del r.(?) p.(Phe305TyrfsTer10) Both (homozygous) - pathogenic (recessive) g.24129017_24129018del g.23802527_23802528del 914_915delTT - HMGCL_000012 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.914_915del r.(?) p.(Phe305TyrfsTer10) Both (homozygous) - pathogenic (recessive) g.24129017_24129018del g.23802527_23802528del 914_915delTT - HMGCL_000012 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.914_915del r.(?) p.(Phe305Tyrfs*10) Both (homozygous) - pathogenic (recessive) g.24129017_24129018del g.23802527_23802528del - - HMGCL_000012 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL9 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.914_915del r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24129017_24129018del g.23802527_23802528del - - HMGCL_000012 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL8 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.914_915del r.(?) p.(Phe305Tyrfs*10) Both (homozygous) - pathogenic (recessive) g.24129017_24129018del g.23802527_23802528del F305fs(-2) - HMGCL_000012 - PubMed: Al-Sayed 2006 - - Germline - 1/36 cases - - - DNA SEQ - - HMGCLD patient PubMed: Al-Sayed 2006 analysis 36 HMG-CoA lyase deficiency cases - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.914_915del r.(?) p.(Phe305Tyrfs*10) Both (homozygous) - pathogenic (recessive) g.24129017_24129018del g.23802527_23802528del g.913-15delTT - HMGCL_000012 study includes functional analysis variant PubMed: Carrasco 2007 - - Germline - - - - - DNA SEQ - - HMGCLD patient PubMed: Carrasco 2007 - - - Spain - - - - - 1 Johan den Dunnen
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