|
rs121918643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
|
1878597 |
1991 |
|
rs121918644
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
|
1878597 |
1991 |
|
rs121918643
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918644
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918637
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918641
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918642
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918647
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1394141324
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1557961718
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs757147440
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The high prevalence of p.Leu520ArgfsX86 and p.Phe327Leu</span> mutations might underlie the high rate of perinatal severe and perinatal benign forms, respectively, in Japanese HPP.
|
31707452 |
2020 |
|
rs1215600806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical, biochemical and radiological features were recorded in two children with extreme HPP phenotypes: Subject 1 (S1): Perinatal HPP with compound heterozygous mutations (c.110T>C; c.532T>C); Subject 2 (S2): asymptomatic with homozygous missense mutation (c.715G>T).
|
31146036 |
2019 |
|
rs1416572796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical, biochemical and radiological features were recorded in two children with extreme HPP phenotypes: Subject 1 (S1): Perinatal HPP with compound heterozygous mutations (c.110T>C; c.532T>C); Subject 2 (S2): asymptomatic with homozygous missense mutation (c.715G>T).
|
31146036 |
2019 |
|
rs143358506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical, biochemical and radiological features were recorded in two children with extreme HPP phenotypes: Subject 1 (S1): Perinatal HPP with compound heterozygous mutations (c.110T>C; c.532T>C); Subject 2 (S2): asymptomatic with homozygous missense mutation (c.715G>T).
|
31146036 |
2019 |
|
rs201250289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten of these individuals were heterozygous for mutations previously described in HPP and two were heterozygous for novel mutations (p.Arg301Trp and p.Tyr101X).
|
31793067 |
2019 |
|
rs746273959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten of these individuals were heterozygous for mutations previously described in HPP and two were heterozygous for novel mutations (p.Arg301Trp and p.Tyr101X).
|
31793067 |
2019 |
|
rs776304194
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten of these individuals were heterozygous for mutations previously described in HPP and two were heterozygous for novel mutations (p.Arg301Trp and p.Tyr101X).
|
31793067 |
2019 |
|
rs567349821
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We successfully generated the first large animal model of a rare human bone disease, hypophosphatasia (HPP) using CRISPR/Cas9 to introduce a single point mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene (ALPL) (1077 C > G) in sheep.
|
30446691 |
2018 |
|
rs146053308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K).
|
26992955 |
2016 |
|
rs146927457
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K).
|
26992955 |
2016 |
|
rs121918015
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A point mutation (c.323C>T) in the ALPL gene leading to a proline to leucine substitution at position 108 of TNSALP was first reported in a patient diagnosed with odonto-HPP (M Herasse et al., J Med Genet 2003;40:605-609), although the effects of this mutation on the TNSALP molecule have not been elucidated.
|
25982064 |
2015 |
|
rs121918014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A point mutation (c.1250A>G), which leads to replacement of an asparagine at position 417 of TNSALP with serine [TNSALP (N417S)], has been reported in a patient diagnosed with perinatal HPP (Sergi C. et al.Am, J. Med.Genet.103, 235-240, 2001).
|
23688511 |
2013 |
|
rs768053120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations at position 420 of TNSALP (standard nomenclature), which convert glycine to serine [TNSALP (G420S)] or alanine [TNSALP (G420A)], have been reported in perinatal and childhood HPP, respectively.
|
23039266 |
2012 |