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Overview of included studies for PFBC-SLC20A2:
Click here for summary of patients' characteristics
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Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(-265+1_-264+1)_(289+1_290-1)del
c.(430+1_431-1)_(516+1_517-1)del
c.(430+1_431-1)_(613+1_614-1)del
c.(613+1_614-1)_(1794+1_1795-1)del
c.1086delC
c.1101_1102delCG
c.1158C>A
c.1187dupT
c.1207C>T
c.1301C>G
c.1399C>T
c.1426G>T
c.1470_1478delGCAGGTCCT
c.1483G>A
c.1492G>A
c.149T>G
c.1507G>A
c.1520_1521delTG
c.1523G>A
c.1524-2A>G
c.1618G>A
c.1703C>T
c.1753G>A
c.1755_1768delCTCCAACATCGGGC
c.1790G>A
c.1794+1G>C
c.1802C>G
c.1802C>T
c.1822_1848delATCCGCTCCCGCAAGGCTGTGGACTGG
c.1828_1831delTCCC
c.1848G>A
c.185T>C
c.1871T>A
c.1876_1887dupTGGTTCGTGACC
c.188G>A
c.1909A>C
c.212G>A
c.21delG
c.220dupT
c.248C>T
c.260_261delTC
c.269G>T
c.289+5G>A
c.323T>C
c.338C>G
c.358G>C
c.362C>G
c.382del
c.509delT
c.514A>T
c.516+1G>A
c.541C>T
c.551C>G
c.551C>T
c.581A>G
c.583_584delGT
c.730+1G>T
c.739C>T
c.852delC
c.935-1G>A
Country
Brazil
China
France
Italy
Japan
Norway
Russia
Sweden
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Ramos, 2018
Mutational screen
22
C
59%
48(+/-25)
p.Pro397Alafs*18
: het
p.Leu50*
: het
c.289+5G>A
: het
p.Val128Serfs*43
: het
p.Arg181Trp
: het
p.Pro184Leu
: het
p.Asn194Ser
: het
c.730+1G>T
: het
p.Gln247*
: het
p.Tyr386*
: het
p.Arg403*
: het
p.Ser434Trp
: het
p.Glu476*
: het
p.Gly498Arg
: het
c.1524-2A>G
: het
p.Ser508Asn
: het
p.Ala585Thr
: het
p.Asn587Serfs*7
: het
p.Ile608_Trp616del
: het
p.Val624Glu
: het
Show more (+17)
Nan, 2018
Case report/Case series
1
A
0%
67
p.Pro184Arg
: het
Konno, 2018
Family study
3
C
67%
29(+/-24)
p.Leu170*
: het
Hozumi, 2018
Other/Mixed
1
A
0%
62
p.Gly120Arg
: het
Ding, 2018
Family study
1
A
0%
50
p.Thr83Met
: het
Taglia, 2018
Mutational screen
1
n.a.
100%
64
p.Trp626_Thr629dup
: het
Koyama, 2017
Mutational screen
3
A
67%
67(+/-10)
p.Gly90Val
: het
p.Val144Glyfs*85
: het
Mi, 2017
Family study
2
A
50%
64(+/-3)
p.Tyr386*
: het
Rubino, 2017
Case report/Case series
1
C
0%
n.a.
p.Gly63Asp
: het
Rohani, 2017
Case report/Case series
1
C
0%
50
p.Ile285Serfs*33
: het
1
2
3
4
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