Full data view for gene GAMT

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

67 entries on 1 page. Showing entries 1 - 67.
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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     
?/. - c.327G>A r.(?) p.(Lys109=) Unknown - VUS g.1399792C>T g.1399793C>T GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=) - GAMT_012004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - - - Germany - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Germany - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation - M - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - France - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - France - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - France - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - M - France - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Morris 2006 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - United States - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - Canada - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - Canada - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - F - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Switzerland - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Switzerland - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Viau 2013 Patient no 1 in Viau et al, 2013 F - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Viau 2013 Patient no 3 in Viau et al, 2013 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - {PMID23583224:El-Gharbawy 2013 Subject no 1 in El-Gharbawy et al, 2013 - - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - {PMID23583224:El-Gharbawy 2013 Subject no 4 in El-Gharbawy et al, 2013 - - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - {PMID23583224:El-Gharbawy 2013 Parent of subject no 1 in El-Gharbawy et al, 2013 - - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - {PMID23583224:El-Gharbawy 2013 Subject 2 in El-Gharbawy et al, 2013 - - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - {PMID23583224:El-Gharbawy 2013 Subject 3 in El-Gharbawy et al, 2013 - - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 1 in Dhar et al, 2009 F - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 1 in Dhar et al, 2009 F - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 3 in Dhar et al, 2009 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 4 in Dhar et al, 2009 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 5 in Dhar et al, 2009 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 6 in Dhar et al, 2009 F - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 6 in Dhar et al, 2009 F - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 7 in Dhar et al, 2009 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 7 in Dhar et al, 2009 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - {PMID23660394:Comeaux 2013 Patient B2 in Comeaux et al, 2013 M - - - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #2 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/+ 2 c.327G>A r.spl? p.(Lys109=) Parent #1 - pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 - PubMed: Item 2004 - - Germline - - - - - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - United Kingdom (Great Britain) - - - - - 1 Gajja Salomons
+/. - c.327G>A r.(?) p.(Lys109=) Unknown - pathogenic g.1399792C>T g.1399793C>T GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=) - GAMT_012004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.327G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.1399792C>T g.1399793C>T - - GAMT_012004 ACMG PVS1, PM2, PP4, PP5, BP4 PubMed: Kritioti 2021 - rs80338735 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat16 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Cyprus Greece - - - - 1 Johan den Dunnen
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