Full data view for gene L2HGDH

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

19 entries on 1 page. Showing entries 1 - 19.
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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     
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 consanguineous parents (1st degree) - yes Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 consanguineous parents (1st degree) - yes Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 consanguineous parents (2nd degree) - yes Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #1 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M - Germany - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M - Germany - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 1928 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Steenweg 2010 - M no Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 1460 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - F yes Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 671 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - F yes Denmark - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 2217 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Steenweg 2010 - M no Germany - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 1742 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M yes Austria - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Both (homozygous) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 350 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M yes Germany - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #1 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 1084 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M no Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 1084 umol/mmol creat PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M no Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #1 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M - Turkey - - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #1 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M no Armenia Armenian - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M no Armenia Armenian - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - Healthy/Control - PubMed: Topcu 2004, OMIM:var0001 - F - Armenia Armenian - - - - 1 Gajja Salomons
+?/. 7 c.905C>T r.(?) p.(Pro302Leu) Parent #2 - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 - PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ, MLPA - - Healthy/Control - PubMed: Topcu 2004, OMIM:var0001 - M - Armenia Armenian - - - - 1 Gajja Salomons
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