rs104894421
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
0.810
GeneticVariation
BEFREE
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome .
20133615
2010
rs104894420
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
0.810
GeneticVariation
BEFREE
Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E ) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.
15333585
2004
rs104894420
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
0.810
GeneticVariation
UNIPROT
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
11779494
2001
rs104894421
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
0.810
GeneticVariation
UNIPROT
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
11779494
2001
rs104894420
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
T
0.810
CausalMutation
CLINVAR
rs104894421
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
T
0.810
CausalMutation
CLINVAR
rs104894418
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
0.710
GeneticVariation
BEFREE
Analysis of additional mutational changes in LIG4 syndrome (R580X , R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.
15333585
2004
rs104894418
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.710
CausalMutation
CLINVAR
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
27063650
2016
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
27612988
2016
rs375554612
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
C
0.700
CausalMutation
CLINVAR
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
27612988
2016
rs780879476
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
G
0.700
CausalMutation
CLINVAR
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
27063650
2016
rs886037777
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
G
0.700
GeneticVariation
CLINVAR
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
27855655
2016
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
25239263
2015
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
24892279
2014
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Extreme growth failure is a common presentation of ligase IV deficiency.
24123394
2014
rs375554612
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
C
0.700
CausalMutation
CLINVAR
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
24892279
2014
rs780879476
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
G
0.700
CausalMutation
CLINVAR
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
24892279
2014
rs1566366148
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
24027040
2013
rs375554612
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
C
0.700
CausalMutation
CLINVAR
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
24027040
2013
rs780879476
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
G
0.700
CausalMutation
CLINVAR
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
24027040
2013
rs780879476
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
G
0.700
CausalMutation
CLINVAR
Identification of the DNA repair defects in a case of Dubowitz syndrome.
23372718
2013
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
16088910
2005
rs780879476
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
G
0.700
CausalMutation
CLINVAR
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
16088910
2005
rs104894419
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
LIG4 Syndrome
A
0.700
CausalMutation
CLINVAR
Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.
15333585
2004