Unique variants in gene SLC2A9

Information The variants shown are described using the NM_001001290.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. 1 - c.64-2284G>A benign r.(=) p.(=) g.10022981C>T - SLC2A9:c.73G>A (G25R) - SLC2A9_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.235T>C benign r.(=) p.(=) g.9998493A>G - SLC2A9:c.235T>C (=) - SLC2A9_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.288G>A benign r.(=) p.(=) g.9998440C>T - SLC2A9:c.288G>A (=) - SLC2A9_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.323+192_323+193insCAGGC benign r.(=) p.(=) g.9998212_9998213insGCCTG - SLC2A9:c.410+191_410+192insCAGGC - SLC2A9_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.480T>C benign r.(=) p.(=) g.9982330A>G - SLC2A9:c.480T>C (=) - SLC2A9_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.794G>A benign r.(?) p.(Arg265His) g.9922130C>T - SLC2A9:c.794G>A (R265H) - SLC2A9_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.962C>T benign r.(?) p.(Pro321Leu) g.9909923G>A - SLC2A9:c.962C>T (P321L) - SLC2A9_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1026+9A>C benign r.(=) p.(=) g.9909850T>G - SLC2A9:c.1026+9A>C - SLC2A9_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1128+62C>T benign r.(=) p.(=) g.9892172G>A - SLC2A9:c.1215+62C>T - SLC2A9_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1282G>A benign r.(?) p.(Val428Ile) g.9836555C>T - SLC2A9:c.1369G>A (V457I) - SLC2A9_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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