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

Editor(s): Guilaine BOURSIER   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for SLC29A3 : 39

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

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