Full data view for gene L2HGDH

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

23 entries on 1 page. Showing entries 1 - 23.
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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.208C>T r.(?) p.(Arg70Ter) Unknown - pathogenic g.50769668G>A g.50302950G>A L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*) - L2HGDH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Pakistan - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Germany - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 L2HG level 1660 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M no Spain - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 L2HG level 1660 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M no Spain - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 L2HG level 2723 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Netherlands - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - France - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - Canada - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Vilarinho 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Vilarinho 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - F - - - - 0 - - 1 Gajja Salomons
+/. - c.208C>T r.(?) p.(Arg70Ter) Unknown - pathogenic g.50769668G>A - L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*) - L2HGDH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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