All variants in the SLC25A5 gene

Information The variants shown are described using the NM_001152.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

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     
?/. - c.112-40_112-38del r.(=) p.(=) - VUS g.118603584_118603586del g.119469621_119469623del - - SLC25A5_000016 - - - - Germline - - - - - Yu Sun
?/. - c.136A>G r.(?) p.(Thr46Ala) - VUS g.118603648A>G g.119469685A>G SLC25A5(NM_001152.4):c.136A>G (p.(Thr46Ala)) - SLC25A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.197dup r.(?) p.(Val67Serfs*8) - VUS g.118603709dup g.119469746dup - - SLC25A5_000017 - - - - Germline - - - - - Yu Sun
?/. - c.197dup r.(?) p.(Val67Serfs*8) - VUS g.118603709dup g.119469746dup - - SLC25A5_000017 - - - - Germline - - - - - Yu Sun
-/. - c.197dup r.(?) p.(Val67SerfsTer8) - benign g.118603709dup g.119469746dup SLC25A5(NM_001152.4):c.197dupG (p.V67Sfs*8) - SLC25A5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.306T>G r.(?) p.(Gly102=) - benign g.118603818T>G g.119469855T>G SLC25A5(NM_001152.4):c.306T>G (p.G102=) - SLC25A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.318A>G r.(?) p.(Arg106=) - benign g.118603830A>G g.119469867A>G SLC25A5(NM_001152.4):c.318A>G (p.R106=) - SLC25A5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.332T>G r.(?) p.(Leu111Arg) - VUS g.118603844T>G g.119469881T>G - - SLC25A5_000002 - - - - Germline - - - - - Yu Sun
?/. - c.332T>G r.(?) p.(Leu111Arg) - VUS g.118603844T>G g.119469881T>G - - SLC25A5_000002 - - - - Germline - - - - - Yu Sun
-/. - c.332T>G r.(?) p.(Leu111Arg) - benign g.118603844T>G g.119469881T>G SLC25A5(NM_001152.4):c.332T>G (p.L111R) - SLC25A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.332T>G r.(?) p.(Leu111Arg) - VUS g.118603844T>G g.119469881T>G - - SLC25A5_000002 recurrent, found 93 times PubMed: Tarpey 2009 - - Germline - 93/208 cases - 0 - Lucy Raymond
?/. - c.343G>A r.(?) p.(Gly115Arg) - VUS g.118603855G>A g.119469892G>A SLC25A5(NM_001152.4):c.343G>A (p.(Gly115Arg)) - SLC25A5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.413G>A r.(?) p.(Arg138His) - likely benign g.118603925G>A g.119469962G>A SLC25A5(NM_001152.4):c.413G>A (p.(Arg138His)) - SLC25A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.446G>A r.(?) p.(Gly149Glu) - VUS g.118603958G>A g.119469995G>A SLC25A5(NM_001152.4):c.446G>A (p.(Gly149Glu)) - SLC25A5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.449del r.(?) p.(Ala150Valfs*66) - VUS g.118603961del g.119469998del - - SLC25A5_000014 - - - - Germline - - - - - Yu Sun
?/. - c.449del r.(?) p.(Ala150Valfs*66) - VUS g.118603961del g.119469998del - - SLC25A5_000014 - - - - Germline - - - - - Yu Sun
?/. - c.450del r.(?) p.(Glu151LysfsTer65) - VUS g.118603962del g.119469999del SLC25A5(NM_001152.4):c.450delT (p.(Glu151LysfsTer65)), SLC25A5(NM_001152.4):c.450delT (p.E151Kfs*65) - SLC25A5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.450del r.(?) p.(Glu151LysfsTer65) - likely benign g.118603962del g.119469999del SLC25A5(NM_001152.4):c.450delT (p.(Glu151LysfsTer65)), SLC25A5(NM_001152.4):c.450delT (p.E151Kfs*65) - SLC25A5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.472G>A r.(?) p.(Gly158Ser) - VUS g.118603984G>A g.119470021G>A SLC25A5(NM_001152.4):c.472G>A (p.(Gly158Ser)) - SLC25A5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.494A>G r.(?) p.(Tyr165Cys) - likely benign g.118604006A>G g.119470043A>G SLC25A5(NM_001152.4):c.494A>G (p.(Tyr165Cys)) - SLC25A5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.502G>A r.(?) p.(Asp168Asn) - likely benign g.118604014G>A g.119470051G>A SLC25A5(NM_001152.4):c.502G>A (p.(Asp168Asn)) - SLC25A5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.518T>C r.(?) p.(Leu173Pro) - likely benign g.118604030T>C g.119470067T>C SLC25A5(NM_001152.4):c.518T>C (p.(Leu173Pro)) - SLC25A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.548G>T r.(?) p.(Gly183Val) - VUS g.118604060G>T g.119470097G>T SLC25A5(NM_001152.4):c.548G>T (p.(Gly183Val)) - SLC25A5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.593C>G r.(?) p.(Ala198Gly) - likely benign g.118604105C>G g.119470142C>G SLC25A5(NM_001152.4):c.593C>G (p.(Ala198Gly)) - SLC25A5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.630C>T r.(?) p.(=) - VUS g.118604367C>T g.119470404C>T - - SLC25A5_000007 - - - - Germline - - - - - Yu Sun
?/. - c.630C>T r.(?) p.(=) - VUS g.118604367C>T g.119470404C>T - - SLC25A5_000007 - - - - Germline - - - - - Yu Sun
?/. - c.679A>G r.(?) p.(Thr227Ala) - VUS g.118604416A>G g.119470453A>G SLC25A5(NM_001152.4):c.679A>G (p.(Thr227Ala)) - SLC25A5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.691T>C r.(?) p.(Phe231Leu) - VUS g.118604428T>C g.119470465T>C SLC25A5(NM_001152.4):c.691T>C (p.(Phe231Leu)) - SLC25A5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.699T>C r.(?) p.(=) - VUS g.118604436T>C g.119470473T>C - - SLC25A5_000009 - - - - Germline - - - - - Yu Sun
?/. - c.699T>C r.(?) p.(=) - VUS g.118604436T>C g.119470473T>C - - SLC25A5_000009 - - - - Germline - - - - - Yu Sun
-?/. - c.699T>C r.(=) p.(=) - likely benign g.118604436T>C g.119470473T>C T233T - SLC25A5_000009 recurrent, found 96 times PubMed: Tarpey 2009 - - Germline - 96/208 cases - 0 - Lucy Raymond
?/. - c.730C>T r.(?) p.(Arg244Cys) - VUS g.118604467C>T g.119470504C>T SLC25A5(NM_001152.4):c.730C>T (p.(Arg244Cys)) - SLC25A5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.739+81dup r.(=) p.(=) - VUS g.118604557dup g.119470594dup - - SLC25A5_000012 - - - - Germline - - - - - Yu Sun
?/. - c.739+81dup r.(=) p.(=) - VUS g.118604557dup g.119470594dup - - SLC25A5_000018 - - - - Germline - - - - - Yu Sun
?/. - c.739+81dup r.(=) p.(=) - VUS g.118604557dup g.119470594dup - - SLC25A5_000012 - - - - Germline - - - - - Yu Sun
?/. - c.739+81dup r.(=) p.(=) - VUS g.118604557dup g.119470594dup - - SLC25A5_000018 - - - - Germline - - - - - Yu Sun
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