SLC29A3 (NM_018344.5) sequence variants
(ENT3, HJCD, PHID, HCLAP)

Editor(s): Guilaine BOURSIER   

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Total current number of sequence variants for SLC29A3 : 39

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

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 2
c.11T>A
p.(Val4Asp)
V4D
Uncertain significance (VUS)To be validated
 2019-05-13
exon 2
c.38C>A
p.(Ser13*)
S13*
Not classifiedTo be validated
 2019-05-13
exon 2
c.42del
p.(Ser15Profs*86)
S15Pfs*86
Likely pathogenicTo be validated
 2019-01-22
exon 2
c.138delC
p.(Glu47Argfs*54)
E47Rfs*54
Likely pathogenicTo be validated
 2019-05-13
exon 2
c.243del
p.(Lys81Asnfs*20)
K81Nfs
PathogenicTo be validated
 2019-01-22
intron 2
c.300+1G>C
p.(Asn101Leufs*34)
N101LfsX34
Not classifiedTo be validated
 2014-07-24
intron 2
c.300+1G>A
p.?
c.300+1G>A
Likely pathogenicTo be validated
 2019-01-22
intron 2
c.300+2T>G
p.?
c.300+2T>G
Likely pathogenicTo be validated
 2019-01-22
exon 3
c.303_319dup
p.(Leu107Profs*39)
c.302_303insCTACTTTGAGAGCTACC
Likely pathogenicTo be validated
 2019-01-22
exon 3
c.308_309del
p.(Phe103*)
F103X
Likely pathogenicTo be validated
 2019-01-22
exon 3
c.325G>A
p.(Val109Ile)
V109I
Not classifiedTo be validated
 2019-05-13
exon 3
c.347T>G
p.(Met116Arg)
M116R
Likely pathogenicTo be validated
 2019-01-22
exon 4
c.400C>T
p.(Arg134Cys)
R133C
Likely pathogenicTo be validated
 2019-01-22
exon 4
c.401G>A
p.(Arg134His)
R134H
Likely pathogenicTo be validated
 2019-01-22
exon 4
c.538A>G
p.(Thr180Ala)
T180A
Not classifiedTo be validated
 2019-05-13
exon 4
c.607T>C
p.(Ser203Pro)
S203P
Likely pathogenicTo be validated
 2019-01-22
intron 4
c.610+1G>C
p.?
c.610+1G>C
Likely pathogenicTo be validated
 2019-01-22
exon 5
c.625G>A
p.(Gly209Arg)
c.625G>A
Likely pathogenicTo be validated
 2019-01-22
exon 5
c.674A>G
p.(Asp225Gly)
D225G
Uncertain significance (VUS)To be validated
 2019-05-13
exon 5
c.688G>A
p.(Ala230Thr)
A230T
Not classifiedTo be validated
 2019-05-13
exon 5
c.707C>T
p.(Thr236Met)
T236M
Uncertain significance (VUS)To be validated
 2019-05-13
exon 5
c.708G>A
p.(Thr236=)
T236T
Not classifiedTo be validated
 2019-05-13
intron 5
c.774-2A>G
p.?
c.774-2A>G
Likely pathogenicTo be validated
 2019-01-21
exon 6
c.933T>A
p.(Cys311*)
C310X
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.940del
p.(Tyr314Thrfs*91)
Y314Tfs
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.946T>G
p.(Phe316Val)
F316V
Not classifiedTo be validated
 2015-12-04
exon 6
c.971C>T
p.(Pro324Leu)
P324L
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1045del
p.(Leu349Serfs*56)
c.1045delC
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1087C>T
p.(Arg363Trp)
c.1087C>T
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1088G>A
p.(Arg363Gln)
R363Q
Not classifiedTo be validated
 2014-07-24
exon 6
c.1157G>A
p.(Arg386Gln)
R386Q
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1172C>A
p.(Pro391His)
c.1172C>A
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1269_1270delinsT
p.(Leu424Serfs*29)
c. 1269_1270delinsA
Not classifiedTo be validated
 2015-05-16
exon 6
c.1269_1270delinsA
p.(Leu424Serfs*29)
c.1269_1270delinsA
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1279G>A
p.(Gly427Ser)
G427S
PathogenicTo be validated
 2019-01-21
exon 6
c.1309G>A
p.(Gly437Arg)
G437R
PathogenicTo be validated
 2019-01-22
exon 6
c.1330G>T
p.(Glu444*)
E444X
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1339G>A
p.(Glu447Lys)
c.1339G>A
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.1346C>G
p.(Thr449Arg)
T449R
Likely pathogenicTo be validated
 2019-01-22