Full data view for gene L2HGDH

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

18 entries on 1 page. Showing entries 1 - 18.
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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.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - M - Lebanon - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Lebanon - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 1033 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - M no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #2 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 987 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #2 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 987 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 1494 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 1576 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #2 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Greece - - 0 - - 1 Gajja Salomons
+?/. - c.164G>A r.(?) p.(Gly55Asp) Unknown ACMG likely pathogenic g.50769712C>T g.50302994C>T - - L2HGDH_000027 ACMG grading: PM3,PM2,PP4,PP1 - - rs118204021 Germline - - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Andreas Laner
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