Full data view for gene L2HGDH

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

51 entries on 1 page. Showing entries 1 - 51.
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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     
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Both (homozygous) - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Lithuania - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - France - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - France - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Germany - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Germany - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Germany - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Italy - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Italy - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Both (homozygous) - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2621 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F yes Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 , - - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 , - - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2352 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M no Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2352 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M no Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Both (homozygous) - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2416 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F yes Luxembourg - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2138 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2138 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - Canada - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ - - L2HGA - {PMID19005678; Jequier Gygax 2009}, PubMed: Steenweg 2010 - M - United States - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Turkey - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Turkey - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - L2HGA - - - M - United States - - - - - 1 Enzo Cohen
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2500 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - Belgium - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2500 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - Belgium - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - - - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - - - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - - - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - - - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 5243 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - M - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - M - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - F - Brazil - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - France - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - France - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - F - France - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - M - France - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - F - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - M - Croatia (Hrvatska) - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - F - - - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - M - - - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #1 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Denmark - - - - - 1 Gajja Salomons
+/. 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 Parent #2 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - - - DNA, RNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Denmark - - - - - 1 Gajja Salomons
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