Full data view for gene L2HGDH

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 1i_4i c.141-1_540+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 L2HG level 2171 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - M yes France - - - - - 1 Gajja Salomons
+/. 1i_4i c.141-1_540+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 L2HG level 815 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - F yes Spain - - - - - 1 Gajja Salomons
+/. 1i_4i c.141-1_540+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 - PubMed: Steenweg 2010 - - Germline - - - - - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - F yes Belgium - - - - - 1 Gajja Salomons
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