rs764314276
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1275362181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the first family, a TCOF1 variant c.3156C>T was identified in the proband with Treacher Collins syndrome.
|
28921562 |
2017 |
rs56180593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report here on a patient with Treacher Collins syndrome (TCS) found to carry a previously reported mutation, c.122C > T, which predicts p.A41V, and a novel synonymous mutation, c.3612A > C. Pedigree analysis showed that the c.122C > T mutation segregated with normal phenotypes in multiple family members while the c.3612A > C was de novo in the patient.
|
19572402 |
2009 |
rs1057521108
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064794474
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119470016
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119470017
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554078461
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554080460
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554081108
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
|
12114482 |
2002 |
rs1554081112
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
|
12114482 |
2002 |
rs1554081112
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
|
22317976 |
2012 |
rs1554081168
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554136123
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554137419
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554137531
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554138811
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554138819
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561540623
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1562347303
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28941769
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776580
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776581
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776582
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
|
21951868 |
2011 |
rs587776582
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
|
9042910 |
1997 |