Full data view for gene L2HGDH

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

24 entries on 1 page. Showing entries 1 - 24.
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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     
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Both (homozygous) - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 consanguineous parents (1st degree) - yes Turkey - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Both (homozygous) - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 consanguineous parents (1st degree) - yes Turkey - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Both (homozygous) - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 consanguineous parents (1st degree) - yes Turkey - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - M - Lebanon - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Lebanon - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - F - Turkey - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - F - Turkey - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ, MLPA - - L2HGA - PubMed: Topcu 2004, OMIM:var0001 - M - Turkey - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Thr370Leufs*13) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1107delT - L2HGDH_000019 - - - - Germline - - - - - DNA SEQ - - L2HGA - - - M - Oman - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Thr370Leufs*13) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1107delT - L2HGDH_000019 - - - - Germline - - - - - DNA SEQ - - L2HGA - - - M - Oman - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - F - Belgium - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - F - Belgium - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - M - Belgium - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - M - Belgium - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Topcu 2004, OMIM:var0002 - F - Belgium - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Topcu 2004, OMIM:var0002 - M - Belgium - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - F - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - F - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - M - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - M - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - M - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #2 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0002 - M - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Topcu 2004, OMIM:var0002 - F - - - - - - - 1 Gajja Salomons
+/. 9 c.1107del r.(?) p.(Met372Serfs*11) Parent #1 - pathogenic (recessive) g.50732166del g.50265448del 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Topcu 2004, OMIM:var0002 - M - - - - - - - 1 Gajja Salomons
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