Unique variants in the SLC2A2 gene

Information The variants shown are described using the NM_000340.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/., -?/. 2 - c.203C>T r.(?) p.(Pro68Leu) - benign, likely benign g.170732426G>A g.171014637G>A SLC2A2(NM_000340.1):c.203C>T (p.P68L) - SLC2A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 2 - c.301G>A r.(?) p.(Val101Ile) - likely benign, VUS g.170732328C>T g.171014539C>T SLC2A2(NM_000340.1):c.301G>A (p.(Val101Ile)) - SLC2A2_000006 12 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs1800572 CLASSIFICATION record, Germline - 12/2793 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-/. 1 - c.329C>T r.(?) p.(Thr110Ile) - benign g.170732300G>A g.171014511G>A - - SLC2A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.496+8A>T r.(=) p.(=) - benign g.170727739T>A g.171009950T>A - - SLC2A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.521_522insCGGT r.(?) p.(Met174IlefsTer6) - pathogenic g.170725028_170725029insCCGA - SLC2A2(NM_000340.1):c.521_522insCGGT (p.M174Ifs*6) - SLC2A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.594G>A r.(?) p.(Thr198=) - benign g.170724955C>T g.171007166C>T - - SLC2A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.683G>A r.(?) p.(Arg228Gln) - likely benign g.170723824C>T g.171006035C>T SLC2A2(NM_000340.1):c.683G>A (p.R228Q) - SLC2A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.776-15C>T r.(=) p.(=) - benign g.170723276G>A g.171005487G>A - - SLC2A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.872T>A r.(?) p.(Ile291Lys) - VUS g.170723165A>T g.171005376A>T SLC2A2(NM_000340.1):c.872T>A (p.(Ile291Lys)) - SLC2A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.1087G>T r.(?) p.(Ala363Ser) - likely benign, VUS g.170716937C>A g.170999148C>A SLC2A2(NM_000340.1):c.1087G>T (p.A363S, p.(Ala363Ser)) - SLC2A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.1171-2A>G r.spl? p.? - pathogenic g.170716187T>C g.170998398T>C SLC2A2(NM_000340.1):c.1171-2A>G - SLC2A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1403T>C r.(?) p.(Leu468Pro) - likely benign g.170715864A>G g.170998075A>G SLC2A2(NM_000340.1):c.1403T>C (p.(Leu468Pro)) - SLC2A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1432C>G r.(?) p.(Leu478Val) - VUS g.170715835G>C g.170998046G>C SLC2A2(NM_000340.1):c.1432C>G (p.L478V) - SLC2A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1437C>T r.(?) p.(Phe479=) - benign g.170715830G>A g.170998041G>A - - SLC2A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1556G>A r.(?) p.(Gly519Glu) - VUS g.170715711C>T g.170997922C>T SLC2A2(NM_000340.1):c.1556G>A (p.(Gly519Glu)) - SLC2A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*234C>A r.(=) p.(=) - likely benign g.170715458G>T g.170997669G>T - - SLC2A2_000016 65 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79424762 Germline - 65/2794 individuals - - - Mohammed Faruq
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