Full data view for gene GAMT

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

32 entries on 1 page. Showing entries 1 - 32.
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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.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 11 in Item et al, 2004 - - Spain - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of patient no 11 in Item et al, 2004 M - Spain - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 13 in Item et al, 2004 - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 13 in Item et al, 2004 - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Mother of Pat no 13 in Item et al, 2004 F - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of pat no 13 in Item et al, 2004 M - Turkey - - 0 - - 1 Gajja Salomons
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