Full data view for gene SLC29A3

Information The variants shown are described using the NM_018344.5 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
?/. - c.73C>T r.(?) p.(Arg25*) Parent #1 - VUS g.73082584C>T g.71322827C>T - - SLC29A3_000040 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs746408350 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.74G>A r.(?) p.(Arg25Gln) Unknown - likely benign g.73082585G>A g.71322828G>A SLC29A3(NM_001174098.1):c.74G>A (p.R25Q) - SLC29A3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.128T>G r.(?) p.(Leu43Arg) Unknown - likely benign g.73082639T>G g.71322882T>G SLC29A3(NM_001174098.1):c.128T>G (p.L43R) - SLC29A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.146G>C r.(?) p.(Arg49Pro) Parent #1 - VUS g.73082657G>C g.71322900G>C - - SLC29A3_000041 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs201610819 Germline - 1/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.269C>T r.(?) p.(Thr90Ile) Unknown - likely benign g.73082780C>T g.71323023C>T SLC29A3(NM_001174098.1):c.269C>T (p.T90I) - SLC29A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2i c.300+1G>A r.spl p.? Both (homozygous) - pathogenic g.73082812G>A g.71323055G>A - - SLC29A3_000010 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Morgan 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.300+1G>A r.spl? p.? Parent #1 - pathogenic g.73082812G>A g.71323055G>A - - SLC29A3_000010 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587780463 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/+ 3 c.307delTT r.(?) p.Phe103X Maternal (confirmed) - pathogenic g.73103972delTT g.71344215delTT - - SLC29A3_000009 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Morgan 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/+? 3 c.347T>G r.(?) p.Met116Arg Both (homozygous) - pathogenic g.73104012T>G g.71344255T>G - - SLC29A3_000004 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.383+1G>A r.spl? p.? Unknown - likely pathogenic g.73104049G>A - SLC29A3(NM_001363518.1):c.149+1G>A - SLC29A3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.383+8A>G r.(=) p.(=) Unknown - benign g.73104056A>G g.71344299A>G SLC29A3(NM_001174098.1):c.383+8A>G - SLC29A3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384-9T>C r.(=) p.(=) Unknown - likely benign g.73111310T>C g.71351553T>C SLC29A3(NM_001174098.1):c.384-9T>C - SLC29A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.400C>T r.(?) p.Arg134Cys Both (homozygous) - likely pathogenic g.73111335C>T g.71351578C>T - - SLC29A3_000011 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Priya 2010 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.462G>A r.(?) p.(Lys154=) Unknown - likely benign g.73111397G>A g.71351640G>A SLC29A3(NM_001174098.1):c.462G>A (p.K154=) - SLC29A3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.473C>T r.(?) p.(Ser158Phe) Unknown - benign g.73111408C>T g.71351651C>T SLC29A3(NM_001174098.1):c.473C>T (p.S158F) - SLC29A3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.497C>T r.(?) p.(Ala166Val) Unknown - likely benign g.73111432C>T g.71351675C>T SLC29A3(NM_001174098.1):c.497C>T (p.A166V) - SLC29A3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.583A>G r.(?) p.(Met195Val) Unknown - VUS g.73111518A>G g.71351761A>G SLC29A3(NM_001363518.1):c.349A>G (p.M117V) - SLC29A3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597G>A r.(?) p.(Gln199=) Unknown - benign g.73111532G>A g.71351775G>A SLC29A3(NM_018344.5):c.597G>A (p.Q199=) - SLC29A3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.607T>C r.(?) p.Ser203Pro Maternal (confirmed) - pathogenic g.73111542T>C g.71351785T>C - - SLC29A3_000014 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Campeau - F no - Greek/Turkish - 0 - - 1 Philippe Campeau
-/. - c.618C>T r.(?) p.(Ala206=) Unknown - benign g.73115845C>T g.71356088C>T SLC29A3(NM_001174098.1):c.618C>T (p.A206=, p.=) - SLC29A3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618C>T r.(?) p.(Ala206=) Unknown - likely benign g.73115845C>T g.71356088C>T SLC29A3(NM_001174098.1):c.618C>T (p.A206=, p.=) - SLC29A3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.714T>C r.(?) p.(Thr238=) Unknown - benign g.73115941T>C g.71356184T>C SLC29A3(NM_001174098.1):c.714T>C (p.T238=) - SLC29A3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.715G>A r.(?) p.(Val239Ile) Unknown - benign g.73115942G>A g.71356185G>A SLC29A3(NM_001174098.1):c.715G>A (p.V239I) - SLC29A3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.831C>T r.(?) p.(Pro277=) Unknown - likely benign g.73121768C>T g.71362011C>T SLC29A3(NM_018344.5):c.831C>T (p.P277=) - SLC29A3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.842T>C r.(?) p.(Leu281Pro) Unknown - benign g.73121779T>C g.71362022T>C SLC29A3(NM_001174098.1):c.*71T>C (p.(=)), SLC29A3(NM_018344.5):c.842T>C (p.L281P) - SLC29A3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.842T>C r.(?) p.(Leu281Pro) Unknown - likely benign g.73121779T>C g.71362022T>C SLC29A3(NM_001174098.1):c.*71T>C (p.(=)), SLC29A3(NM_018344.5):c.842T>C (p.L281P) - SLC29A3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.940del r.(?) p.(Tyr314ThrfsTer91) Both (homozygous) - pathogenic g.73121877del g.71362120del - - SLC29A3_000005 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.946T>G r.(?) p.(Phe316Val) Unknown - likely benign g.73121883T>G g.71362126T>G SLC29A3(NM_018344.5):c.946T>G (p.F316V) - SLC29A3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.976A>G r.(?) p.(Ile326Val) Unknown - benign g.73121913A>G g.71362156A>G SLC29A3(NM_018344.6):c.976A>G (p.I326V) - SLC29A3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.976A>G r.(?) p.(Ile326Val) Unknown - benign g.73121913A>G g.71362156A>G SLC29A3(NM_018344.6):c.976A>G (p.I326V) - SLC29A3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001A>G r.(?) p.(Asn334Ser) Unknown - likely benign g.73121938A>G g.71362181A>G SLC29A3(NM_001174098.1):c.*230A>G (p.(=)), SLC29A3(NM_018344.5):c.1001A>G (p.N334S), SLC29A3(NM_018344.6):c.1001A>G (p.N334S) - SLC29A3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1001A>G r.(?) p.(Asn334Ser) Unknown - likely benign g.73121938A>G g.71362181A>G SLC29A3(NM_001174098.1):c.*230A>G (p.(=)), SLC29A3(NM_018344.5):c.1001A>G (p.N334S), SLC29A3(NM_018344.6):c.1001A>G (p.N334S) - SLC29A3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1001A>G r.(?) p.(Asn334Ser) Unknown - likely benign g.73121938A>G - SLC29A3(NM_001174098.1):c.*230A>G (p.(=)), SLC29A3(NM_018344.5):c.1001A>G (p.N334S), SLC29A3(NM_018344.6):c.1001A>G (p.N334S) - SLC29A3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008T>C r.(?) p.(Gly336=) Unknown - benign g.73121945T>C g.71362188T>C SLC29A3(NM_018344.6):c.1008T>C (p.G336=) - SLC29A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.1045del r.(?) p.(Leu349SerfsTer56) Both (homozygous) - pathogenic g.73121982del g.71362225del - - SLC29A3_000003 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Molho-Pessach 2008 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1087C>T r.(?) p.Arg363Trp Both (homozygous) - likely pathogenic g.73122024C>T g.71362267C>T - - SLC29A3_000012 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Molho-Pessach 2010 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1088G>A r.(?) p.Arg363Gln Both (homozygous) - likely pathogenic g.73122025G>A g.71362268G>A - - SLC29A3_000013 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Molho-Pessach 2010 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1146C>T r.(?) p.(Phe382=) Unknown - likely benign g.73122083C>T g.71362326C>T SLC29A3(NM_018344.5):c.1146C>T (p.F382=), SLC29A3(NM_018344.6):c.1146C>T (p.F382=) - SLC29A3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1146C>T r.(?) p.(Phe382=) Unknown - likely benign g.73122083C>T g.71362326C>T SLC29A3(NM_018344.5):c.1146C>T (p.F382=), SLC29A3(NM_018344.6):c.1146C>T (p.F382=) - SLC29A3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.1157G>A r.(?) p.Arg386Gln Paternal (confirmed) - pathogenic g.73122094G>A g.71362337G>A - - SLC29A3_000015 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Campeau - F no - Greek/Turkish - 0 - - 1 Philippe Campeau
?/. - c.1235A>G r.(?) p.(Asp412Gly) Unknown - VUS g.73122172A>G g.71362415A>G SLC29A3(NM_018344.6):c.1235A>G (p.D412G) - SLC29A3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 6 c.1279G>A r.(?) p.Gly427Ser Both (homozygous) - likely pathogenic g.73122216G>A g.71362459G>A - - SLC29A3_000002 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Molho-Pessach 2008 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Molho-Pessach 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Morgan 2010 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Paternal (confirmed) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Morgan 2010 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Priya 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 6 c.1330G>T r.(?) p.Glu444X Both (homozygous) - pathogenic g.73122267G>T g.71362510G>T - - SLC29A3_000006 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/+? 6 c.1346C>G r.(?) p.Thr449Arg Both (homozygous) - pathogenic g.73122283C>G g.71362526C>G - - SLC29A3_000007 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
?/? 6 c.1346C>G r.(?) p.Thr449Arg Both (homozygous) - VUS g.73122283C>G g.71362526C>G - - SLC29A3_000007 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Campeau - F yes - - - 0 - - 1 Philippe Campeau
+/. - c.1346C>G r.(?) p.(Thr449Arg) Parent #1 - pathogenic g.73122283C>G g.71362526C>G - - SLC29A3_000007 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs267607058 Germline - 2/2788 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.*711C>T r.(=) p.(=) Parent #1 - likely benign g.73123076C>T g.71363319C>T - - SLC29A3_000042 207 heterozygous; Clinindb (India) Faruq 2020, submtted - rs2275579 Germline - 207/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 207 Mohammed Faruq
-?/. - c.*711C>T r.(=) p.(=) Both (homozygous) - likely benign g.73123076C>T g.71363319C>T - - SLC29A3_000042 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs2275579 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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