Full data view for gene GAMT

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

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - United States - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - United States - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - United States - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - F - Ireland - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - F - Ireland - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - Ireland - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #2 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Viau 2013 Patient no 2 in Viau et al, 2013 F - - - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #2 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Viau 2013 Patient no 5 in Viau et al, 2013 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Cheillan 2012 - - - France - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #2 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Cheillan 2012 - - - France - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Cheillan 2012 - - - France - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #2 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Cheillan 2012 - - - France - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #2 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 3 in Dhar et al, 2009 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) Parent #1 - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - F - Netherlands - - - - - 1 Gajja Salomons
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