Full data view for gene L2HGDH

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

27 entries on 1 page. Showing entries 1 - 27.
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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     
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Both (homozygous) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 consanguineous parents (1st degree) - yes Turkey - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Both (homozygous) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies; L2HG level 1703 umol/mmol creat PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F yes Germany - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Both (homozygous) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies; L2HG level 1592 umol/mmol creat PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F yes Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Belgium - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Belgium - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - France - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies; no variant 2nd allele PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Netherlands - - - - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies;no variant 2nd allele PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Netherlands - - - - - 1 Gajja Salomons
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