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CanVaS - A Greek Cancer Patient Genetic Variation Resource
PRF1 (perforin 1)
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Curator:
Despoina Kalfakakou
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View all transcripts of gene PRF1
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Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
3 entries on 1 page. Showing entries 1 - 3.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00095
HNPCC1
Colorectal cancer, hereditary nonpolyposis, type 1
120435
-
0
0
MSH2
-
-
00094
MMRCS
Mismatch repair cancer syndrome
276300
-
0
0
MLH1, MSH2, MSH6, PMS2
-
-
00093
MRTES
Muir-Torre syndrome
158320
-
0
0
MLH1, MSH2
-
-
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