rs121909574
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
C |
0.810 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
|
0.810 |
GeneticVariation |
BEFREE |
DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients.
|
20358615 |
2010 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
TFAP2A mutations result in branchio-oculo-facial syndrome.
|
18423521 |
2008 |
rs121909575
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
TFAP2A mutations result in branchio-oculo-facial syndrome.
|
18423521 |
2008 |
rs151344528
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
TFAP2A mutations result in branchio-oculo-facial syndrome.
|
18423521 |
2008 |
rs121909575
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs151344528
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs151344528
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs151344531
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome.
|
22276601 |
2012 |
rs151344531
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Coloboma of the Retina
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Abnormality of the middle ear ossicles
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Branchial anomaly
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Dilatated internal auditory canal
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Conductive hearing loss, bilateral
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Strabismus
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Cleft upper lip
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Stenosis of nasolacrimal duct
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Cleft palate, isolated
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Long narrow head
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs151344525
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs151344525
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs151344530
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |