Full data view for gene GAMT

Information The variants shown are described using the NM_000156.5 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

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Technique     

Tissue     

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Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
-/- 1 c.79T>C r.(?) p.(Tyr27His) Parent #1 - benign g.1401397A>G g.1401398A>G - - GAMT_012044 variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts) Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - F - - - - 0 - - 1 Gajja Salomons
-/- 1 c.79T>C r.(?) p.(Tyr27His) Parent #2 - benign g.1401397A>G g.1401398A>G - - GAMT_012044 variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts) Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - F - - - - 0 - - 1 Gajja Salomons
-/- 1 c.79T>C r.(?) p.Tyr27His Parent #2 - NA g.1401397A>G g.1401398A>G - - GAMT_012044 overexpression in primary GAMT deficient fibroblasts restores GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.79T>C r.(?) p.(Tyr27His) Unknown - likely benign g.1401397A>G g.1401398A>G GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H) - GAMT_012044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79T>C r.(?) p.(Tyr27His) Unknown - likely benign g.1401397A>G g.1401398A>G GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H) - GAMT_012044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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