All variants in the SLC25A15 gene

Information The variants shown are described using the NM_014252.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/. _1_7_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_41367362)_(41383804del_?)del - - - SLC25A15_000018 microdeletion PubMed: Camacho 1999, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. _1_7_ c.0 r.0 p.0 - pathogenic g.(?_41367362)_(41383804_?)del - - - SLC25A15_000019 - PubMed: Camacho 1999, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.25del r.(?) p.(Ala9LeufsTer17) - likely pathogenic g.41367387del g.40793251del SLC25A15(NM_014252.3):c.25delG (p.A9Lfs*17) - SLC25A15_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 c.44C>T r.(?) p.(Ala15Val) - pathogenic g.41367406C>T g.40793270C>T 280C>T - SLC25A15_000017 not in 100 controls - - - Germline - - - 0 - Nagehan Ersoy Tunali
-?/. - c.55+6G>C r.(=) p.(=) - likely benign g.41367423G>C - SLC25A15(NM_014252.3):c.55+6G>C - SLC25A15_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.79G>A r.(?) p.(Gly27Arg) - pathogenic g.41373216G>A g.40799080G>A - - SLC25A15_000010 - PubMed: Salvi 2001, OMIM:var0004 - - Germline - - HpaII- 0 - Johan den Dunnen
+/. 3 c.79G>A r.(?) p.(Gly27Arg) - pathogenic g.41373216G>A g.40799080G>A - - SLC25A15_000010 - PubMed: Salvi 2001, OMIM:var0004 - - Germline - - HpaII- 0 - Johan den Dunnen
+/. 3 c.79G>A r.(?) p.(Gly27Arg) - pathogenic g.41373216G>A g.40799080G>A - - SLC25A15_000010 - PubMed: Salvi 2001, OMIM:var0004 - - Germline - - HpaII- 0 - Johan den Dunnen
+/. - c.112C>T r.(?) p.(Gln38*) - pathogenic g.41373249C>T - SLC25A15(NM_014252.4):c.112C>T (p.Q38*) - SLC25A15_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 c.117G>A r.(?) p.(=) - benign g.41373254G>A g.40799118G>A Thr39Thr - SLC25A15_000001 - PubMed: Mitchell 2009 - - Germline - 5/94 - 0 - Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Tyr55Ter) - pathogenic g.41373301dup g.40799165dup 164insA - SLC25A15_000015 - PubMed: Salvi 2001 - - Germline - - TrulI+ 0 - Johan den Dunnen
?/. - c.172G>A r.(?) p.(Val58Met) - VUS g.41373309G>A g.40799173G>A SLC25A15(NM_014252.3):c.172G>A (p.(Val58Met)) - SLC25A15_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.182G>A r.(?) p.(Arg61His) - likely benign g.41373319G>A g.40799183G>A SLC25A15(NM_014252.3):c.182G>A (p.R61H) - SLC25A15_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.216C>T r.(?) p.(Ile72=) - likely benign g.41373353C>T - SLC25A15(NM_014252.4):c.216C>T (p.I72=) - SLC25A15_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 3 c.265C>T r.(?) p.(Gln89*) - pathogenic g.41373402C>T g.40799266C>T - - SLC25A15_000014 - PubMed: Salvi 2001 - - Germline - - BfaI+ 0 - Johan den Dunnen
+/. 3 c.265C>T r.(?) p.(Gln89*) - pathogenic g.41373402C>T g.40799266C>T - - SLC25A15_000014 - PubMed: Salvi 2001 - - Germline - - BfaI+ 0 - Johan den Dunnen
?/. - c.277C>T r.(?) p.(Arg93Trp) - VUS g.41373414C>T - SLC25A15(NM_014252.3):c.277C>T (p.R93W) - SLC25A15_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3i c.314+22T>A r.(?) p.(=) - benign g.41373473T>A g.40799337T>A - - SLC25A15_000002 - PubMed: Mitchell 2009 - - Germline - 2/94 - 0 - Johan den Dunnen
-?/. - c.315-7C>A r.(=) p.(=) - likely benign g.41379247C>A g.40805111C>A SLC25A15(NM_014252.3):c.315-7C>A - SLC25A15_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 4 c.333C>T r.(?) p.(=) - benign g.41379272C>T g.40805136C>T Ala111Ala - SLC25A15_000003 - PubMed: Mitchell 2009 - rs9577152 Germline - 5/94 - 0 - Johan den Dunnen
+?/. - c.392A>C r.(?) p.(Lys131Thr) - likely pathogenic g.41379331A>C - - - SLC25A15_000032 - - - - Unknown - - - 0 - IMGAG
+/. 5 c.535C>T r.(?) p.(Arg179*) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 - PubMed: Miyamoto 2001, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.535C>T r.(?) p.(Arg179*) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 - PubMed: Miyamoto 2001, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.535C>T r.(?) p.(Arg179*) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 - PubMed: Miyamoto 2001, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.535C>T r.(?) p.(Arg179*) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 - PubMed: Miyamoto 2001, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.535C>T r.(?) p.(Arg179*) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 - PubMed: Salvi 2001 - - Germline - - TaqI- 0 - Johan den Dunnen
+/. 5 c.535C>T r.(?) p.(Arg179*) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 - PubMed: Salvi 2001 - - Germline - - TaqI- 0 - Johan den Dunnen
+/. - c.535C>T r.(?) p.(Arg179Ter) - pathogenic g.41381512C>T g.40807376C>T - - SLC25A15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.538G>A r.538g>a p.Glu180Lys - pathogenic g.41381515G>A g.40807379G>A - - SLC25A15_000008 - PubMed: Camacho 1999, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.538G>A r.(?) p.Glu180Lys - NA g.41381515G>A g.40807379G>A - - SLC25A15_000008 expression cloning shows impaired stability and/or targeting (protein does not target mitochondria) PubMed: Camacho 1999, OMIM:var0002 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.538G>A r.(?) p.(Glu180Lys) - pathogenic g.41381515G>A g.40807379G>A - - SLC25A15_000008 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894424 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 5 c.562_564del r.562_564del p.Phe188del - pathogenic g.41381539_41381541del g.40807403_40807405del - - SLC25A15_000007 - PubMed: Camacho 1999, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.562_564del r.562_564del p.Phe188del - pathogenic g.41381539_41381541del g.40807403_40807405del - - SLC25A15_000007 - PubMed: Camacho 1999, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.562_564del r.(?) p.(Phe188del) - pathogenic g.41381539_41381541del g.40807403_40807405del - - SLC25A15_000007 - PubMed: Salvi 2001, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.562_564del r.(?) p.Phe188del - NA g.41381539_41381541del g.40807403_40807405del - - SLC25A15_000007 expression cloning shows impaired stability and/or targeting (protein does not target mitochondria) PubMed: Camacho 1999, OMIM:var0001 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-/. 5 c.564C>T r.(?) p.(=) - benign g.41381541C>T g.40807405C>T Phe187Phe - SLC25A15_000004 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - Johan den Dunnen
+/. 5 c.569G>A r.(?) p.(Gly190Asp) - pathogenic g.41381546G>A g.40807410G>A - - SLC25A15_000016 - PubMed: Salvi 2001 - - Germline - - MaeIII+ 0 - Johan den Dunnen
-?/. - c.576A>G r.(?) p.(Glu192=) - likely benign g.41381553A>G g.40807417A>G SLC25A15(NM_014252.3):c.576A>G (p.E192=) - SLC25A15_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.623-6C>T r.(=) p.(=) - likely benign g.41382568C>T g.40808432C>T SLC25A15(NM_014252.3):c.623-6C>T (p.(=)) - SLC25A15_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.632C>T r.(?) p.(Pro211Leu) - VUS g.41382583C>T - SLC25A15(NM_014252.4):c.632C>T (p.P211L) - SLC25A15_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.677C>T r.(?) p.(Ala226Val) - likely benign g.41382628C>T g.40808492C>T SLC25A15(NM_014252.3):c.677C>T (p.A226V) - SLC25A15_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 6 c.760A>T r.(?) p.(=) - benign g.41382711A>T g.40808575A>T Ile254Leu - SLC25A15_000005 - PubMed: Mitchell 2009 - rs17849654 Germline - 37/94 - 0 - Johan den Dunnen
-/. - c.760A>T r.(?) p.(Ile254Leu) - benign g.41382711A>T g.40808575A>T SLC25A15(NM_014252.4):c.760A>T (p.I254L), TPTE2P5(NR_038258.1):n.623-7851T>A - SLC25A15_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 6i c.781+1G>A r.spl? p.? - pathogenic g.41382733G>A g.40808597G>A IVS5+1G>A - SLC25A15_000012 - PubMed: Salvi 2001 - - Germline - - HpHI- 0 - Johan den Dunnen
+/. 6i c.781+1G>A r.spl? p.? - pathogenic g.41382733G>A g.40808597G>A IVS5+1G>A - SLC25A15_000012 - PubMed: Salvi 2001 - - Germline - - HpHI- 0 - Johan den Dunnen
-?/. - c.789G>A r.(?) p.(Thr263=) - likely benign g.41383686G>A g.40809550G>A SLC25A15(NM_014252.3):c.789G>A (p.T263=) - SLC25A15_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.817A>G r.(?) p.(Met273Val) - likely benign g.41383714A>G g.40809578A>G SLC25A15(NM_014252.3):c.817A>G (p.M273V) - SLC25A15_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 7 c.824G>A r.(?) p.(Arg275Gln) - pathogenic g.41383721G>A g.40809585G>A - - SLC25A15_000011 - PubMed: Salvi 2001, OMIM:var0005 - - Germline - - TaqI- 0 - Johan den Dunnen
+/. 7 c.824G>A r.(?) p.(Arg275Gln) - pathogenic g.41383721G>A g.40809585G>A - - SLC25A15_000011 - PubMed: Salvi 2001, OMIM:var0005 - - Germline - - TaqI- 0 - Johan den Dunnen
+/. 7 c.(879dupG) r.(?) p.fs - pathogenic g.41383776dupG g.40809640dupG 861insG - SLC25A15_000013 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Salvi 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.(879dupG) r.(?) p.fs - pathogenic g.41383776dupG g.40809640dupG 861insG - SLC25A15_000013 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Salvi 2001 - - Germline - - - 0 - Johan den Dunnen
-/. 7 c.*48T>A r.(?) p.(=) - benign g.41383851T>A g.40809715T>A - - SLC25A15_000006 - PubMed: Mitchell 2009 - - Germline - 2/94 - 0 - Johan den Dunnen
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