rs1399429058
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
30450527
2018
rs1399429058
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
30414627
2018
rs1399429058
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
30323018
2018
rs757209071
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
30323018
2018
rs757209071
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
30450527
2018
rs757209071
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
30414627
2018
rs768222183
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
30414627
2018
rs768222183
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
30323018
2018
rs768222183
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
30450527
2018
rs778985686
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
30414627
2018
rs778985686
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
30450527
2018
rs778985686
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
30323018
2018
rs1399429058
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
27612211
2016
rs757209071
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
27612211
2016
rs768222183
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
27612211
2016
rs778985686
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
27612211
2016
rs138305578
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
C
0.800
GeneticVariation
CLINVAR
rs138305578
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
0.800
GeneticVariation
UNIPROT
rs1399429058
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
T
0.800
GeneticVariation
CLINVAR
rs267608671
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
0.800
GeneticVariation
UNIPROT
rs267608671
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
C
0.800
CausalMutation
CLINVAR
rs757209071
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
T
0.800
GeneticVariation
CLINVAR
rs768222183
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
T
0.800
CausalMutation
CLINVAR
rs768222183
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
T
0.800
GeneticVariation
CLINVAR
rs778985686
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
Wiedemann-Rautenstrauch syndrome
T
0.800
CausalMutation
CLINVAR