Full data view for gene GAMT

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - M - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - {PMID23660394:Comeaux 2013 Patient B2 in Comeaux et al, 2013 M - - - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.Trp45Arg Parent #1 - NA g.1401343A>T g.1401344A>T - - GAMT_012026 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.133T>A r.(?) p.(Trp45Arg) Unknown - pathogenic g.1401343A>T g.1401344A>T GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R) - GAMT_012026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133T>A r.(?) p.(Trp45Arg) Unknown - VUS g.1401343A>T - GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R) - GAMT_012026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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