rs1131690985
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration.
|
10890722 |
2000 |
rs1249050389
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The effect of HH pathway hyperactivation (due to c.573C>G mutation on PTCH1 gene that cause NBCCS) on renal ADPKD progression in the proband was compared to 18 age- and sex-matched ADPKD patients in a 9-year, prospective, follow-up study.
|
30368514 |
2018 |
rs755103500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma.
|
19533801 |
2009 |
rs766905791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma.
|
19533801 |
2009 |
rs773304123
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway.
|
18285427 |
2008 |
rs878853856
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057520590
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502264
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502268
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
|
16301862 |
2006 |
rs1060502268
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
|
16088933 |
2005 |
rs1060502268
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
|
12655573 |
2003 |
rs1060502268
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
|
24204797 |
2013 |
rs1060502271
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502273
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502274
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502277
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060502277
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
|
16301862 |
2006 |
rs1060502277
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
PTCH mutations: distribution and analyses.
|
16419085 |
2006 |
rs1060502278
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502280
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502281
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502285
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060502286
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060502292
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PTCH mutations: distribution and analyses.
|
16419085 |
2006 |