rs104893751
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853236
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1397145500
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs147608663
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1555212014
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs372947534
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs397516440
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs5030820
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776825
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587782274
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs754729248
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs758175953
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs78683075
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs864321679
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs876658517
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs879255678
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104893824
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Another mutation, T547C, which causes Tyr112 to His, has been seen at the same position and has been associated with VHL type 2A (pheochromocytoma, but no renal cell carcinoma) in two families with a total of 22 affected individuals [Chen F, Slife L, Kishida T, Mulvihill J, Tisherman SE, Zbar B, 1996: J Med Genet 33:716-717].
|
10533030 |
1999 |
rs1362888828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, a distinct Tiam1 mutation (A441G) was identified in several human RCCs.
|
11054665 |
2000 |
rs553863637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, a distinct Tiam1 mutation (A441G) was identified in several human RCCs.
|
11054665 |
2000 |
rs1801282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.
|
11511919 |
2001 |
rs1805192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.
|
11511919 |
2001 |
rs28940297
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.
|
11986208 |
2002 |
rs104893824
|
|
|
0.020 |
GeneticVariation |
BEFREE |
From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function.
|
12510195 |
2003 |