CECR1 (NM_001282225.1) sequence variants
(ADA2, ADGF, IDGFL)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for CECR1 : 37

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
del EXON 15 flankingc.-10646_-46-4514delp?
 2017-04-27
c.-114delC5 flankingc.-2484delGp?
 2017-04-27
M1Texon 2c.2T>Cp.Met1Thr
 2014-02-25
G25Cexon 2c.73G>Tp.Gly25Cys
 2014-06-13
G47Rexon 2c.139G>Ap.Gly47Arg
 2014-02-25
G47Wexon 2c.139G>Tp.Gly47Trp
 2015-09-17
G47Aexon 2c.140G>Cp.Gly47Ala
 2014-02-25
G47Vexon 2c.140G>Tp.Gly47Val
 2014-02-26
R49Gfs*4exon 2c.144delGp.Arg49Glyfs*4
 2014-09-24
R49Wexon 2c.145C>Tp.Arg49Trp
 2017-01-15
N53Nexon 2c.159C>Tp.(=)
 2014-03-11
K13delexon 2c.163_165delp.Lys55del
 2017-04-27
I93Texon 2c.278T>Cp.Ile93Thr
 2014-02-25
A109Dexon 3c.326C>Ap.Ala109Asp
 2014-02-25
H112Qexon 3c.336C>Gp.His112Gln
 2014-02-25
G142Sexon 3c.424G>Ap.Gly142Ser
 2017-04-27
R169Qexon 3c.506G>Ap.Arg169Gln
 2014-02-25
P193Lexon 4c.578C >Tp.Pro193Leu
 2014-10-06
M243Rexon 4c.728T>Gp.Met243Arg
 2017-04-27
A247Vexon 4c.740C>Tp.Ala247Val
 2017-01-15
P251Lexon 4c.752C>Tp.Pro251Leu
 2014-02-26
W264Sexon 5c.791G>Cp.Trp264Ser
 2014-02-26
R306*exon 6c.916C>Tp.Arg306*
 2014-04-18
M309Iexon 6c.927G>Ap.Met309Ile
 2017-01-15
c.973-2A>Gintron 6c.973-2A>Gp.(?)
 2015-07-14
delEx7exon 7c.973-?_1081+?delp.Val325Thrfs*7
 2014-09-24
E328Kexon 7c.982G>Ap.Glu328Lys
 2017-04-27
H335Rexon 7c.1004A>Gp.His335Arg
 2014-09-24
F355Lexon 7c.1065C>Ap.Phe355Leu
 2017-04-27
T360Aexon 7c.1078A>Gp.Thr360Ala
 2014-08-01
N370Kexon 8c.1110C>Ap.Asn370Lys
 2017-04-27
G383Sexon 8c.1147G>Ap.Gly383Ser
 2014-08-01
c.1240-5C>Gintron 8c.1240-5C>G-
 2014-09-24
Y453Cexon 9c.1358A>Gp.Tyr453Cys
 2014-02-25
Y453Yexon 9c.1359T>Cp.(=)
 2014-09-24
c.1442+11T>Cintron 9c.1442+11T>C-
 2014-09-24
c.1442+31G>Aintron 9c.1442+31G>A-
 2014-09-24