Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation BEFREE We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
0.710 GeneticVariation BEFREE We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs147611168
rs147611168
GCDH ; SYCE2
A 0.710 CausalMutation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients. 28794906

2017
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
dbSNP: rs1555751995
rs1555751995
GCDH ; SYCE2
G 0.700 GeneticVariation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
dbSNP: rs776082304
rs776082304
GCDH ; SYCE2
G 0.700 GeneticVariation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
dbSNP: rs1277384196
rs1277384196
GCDH ; SYCE2
0.010 GeneticVariation BEFREE The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. 15248096

2004
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation BEFREE The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. 15248096

2004
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs150938052
rs150938052
GCDH ; SYCE2
0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs372983141
rs372983141
GCDH ; SYCE2
0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs778153326
rs778153326
GCDH ; SYCE2
0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs1282266790
rs1282266790
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998