rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
1714233
1991
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
BEFREE
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP ): Extreme haplotype heterogeneity for the mutation R116W .
14757946
2004
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
8262523
1993
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
15669678
2004
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Molecular analyses of unrelated AIP patients revealed six exonic mutations: an initiating methionine to isoleucine substitution (M1I) in a patient with variant AIP , which precluded translation of the housekeeping, but not the erythroid-specific isozyme; four missense mutations in classical AIP patients, V93F, R116W , R201W, C247F; and a nonsense mutation W283X in a classical AIP patient, which truncated the housekeeping and erythroid-specific isozymes.
7962538
1994
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
9463797
1998
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
T
0.830
CausalMutation
CLINVAR
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
14669009
2004
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
19292878
2009
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
25870942
2015
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
10602775
1999
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
7757070
1995
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
10453740
1999
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
9225970
1997
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
23815679
2013
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP ): Extreme haplotype heterogeneity for the mutation R116W .
14757946
2004
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
10657149
1999
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
25703257
2015
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
8825929
1995
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
11857754
2002
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
CRIM-positive mutations of acute intermittent porphyria in Finland.
1301948
1992
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
BEFREE
This common R116W haplotype based on 7 SNPs strongly suggests that th e relatively high frequency of the R116W mutation in Dutch AIP patients is due a founder effect (eldest parent in pedigree was born in 1750!!).
19656453
2009
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
UNIPROT
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
11013452
2000
rs118204094
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
Acute intermittent porphyria
0.830
GeneticVariation
BEFREE
Most AIP mutations were private; however, certain mutations were frequently found in Dutch (R116W ) and Swedish (W198X) AIP families.
7866402
1994