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)     

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.148A>C r.(?) p.(Met50Leu) Parent #1 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #2 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #1 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Mercimek-Mahmutoglu 2006 - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #1 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.Met50Leu Parent #1 - NA g.1401328T>G g.1401329T>G - - GAMT_012017 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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