All variants in the SLC25A19 gene

Information The variants shown are described using the NM_021734.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.73T>G r.(?) p.(Ser25Ala) - VUS g.73282773A>C - SLC25A19(NM_001126121.2):c.73T>G (p.(Ser25Ala)) - SLC25A19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.125G>A r.(?) p.(Arg42His) - VUS g.73282721C>T g.75286640C>T SLC25A19(NM_001126121.2):c.125G>A (p.R42H) - SLC25A19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.154C>T r.(?) p.(Arg52Cys) - VUS g.73282519G>A - SLC25A19(NM_021734.4):c.154C>T (p.R52C) - SLC25A19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.289-26G>A r.(=) p.(=) - benign g.73279700C>T g.75283619C>T SLC25A19(NM_001126121.2):c.289-26G>A - SLC25A19_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.339T>C r.(?) p.(Tyr113=) - benign g.73279624A>G g.75283543A>G SLC25A19(NM_001126121.2):c.339T>C (p.Y113=) - SLC25A19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.339T>C r.(?) p.(Tyr113=) - benign g.73279624A>G g.75283543A>G SLC25A19(NM_001126121.2):c.339T>C (p.Y113=) - SLC25A19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.373G>A r.(?) p.(Gly125Ser) - pathogenic (recessive) g.73279590C>T g.75283509C>T - - SLC25A19_000012 shared 4 Mb homozygous region PubMed: Spiegel 2009, OMIM:var0002 - rs387906944 Germline yes - - - - Johan den Dunnen
+/. 5 c.373G>A r.(?) p.(Gly125Ser) - pathogenic (recessive) g.73279590C>T g.75283509C>T - - SLC25A19_000012 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - Johan den Dunnen
+/. 5 c.373G>A r.(?) p.(Gly125Ser) - pathogenic (recessive) g.73279590C>T g.75283509C>T - - SLC25A19_000012 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - Johan den Dunnen
+/. 5 c.373G>A r.(?) p.(Gly125Ser) - pathogenic (recessive) g.73279590C>T g.75283509C>T - - SLC25A19_000012 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - Johan den Dunnen
+/. 5 c.373G>A r.(?) p.(Gly125Ser) - pathogenic (recessive) g.73279590C>T g.75283509C>T - - SLC25A19_000012 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.429del r.(?) p.(Thr144ProfsTer39) - VUS g.73279534del g.75283453del SLC25A19(NM_001126121.2):c.429delC (p.T144Pfs*39) - SLC25A19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.476G>A r.(?) p.(Arg159His) - likely benign g.73274400C>T g.75278319C>T SLC25A19(NM_001126121.2):c.476G>A (p.(Arg159His)), SLC25A19(NM_001126122.1):c.476G>A (p.R159H) - SLC25A19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.476G>A r.(?) p.(Arg159His) - VUS g.73274400C>T - SLC25A19(NM_001126121.2):c.476G>A (p.(Arg159His)), SLC25A19(NM_001126122.1):c.476G>A (p.R159H) - SLC25A19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.483C>T r.(?) p.(Ala161=) - likely benign g.73274393G>A g.75278312G>A SLC25A19(NM_001126122.1):c.483C>T (p.A161=) - SLC25A19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.495G>A r.(?) p.(Met165Ile) - pathogenic g.73274381C>T g.75278300C>T - - SLC25A19_000009 - PubMed: Lionel 2018 - - Germline - - - - - Johan den Dunnen
+?/. - c.505G>A r.(?) p.(Glu169Lys) - likely pathogenic g.73274371C>T g.75278290C>T - - SLC25A19_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs759157320 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. - c.505G>A r.(?) p.(Glu169Lys) ACMG likely pathogenic g.73274371C>T g.75278290C>T - - SLC25A19_000016 ACMG PM1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.530G>C r.(?) p.(Gly177Ala) - pathogenic (recessive) g.73274346C>G g.75278265C>G - - SLC25A19_000011 - PubMed: Rosenberg 2002, OMIM:var0001 - rs119473030 Germline yes - - - - Johan den Dunnen
+/. - c.580T>C r.(?) p.(Ser194Pro) - pathogenic (recessive) g.73274296A>G g.75278215A>G - - SLC25A19_000013 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - Johan den Dunnen
+/. 6 c.580T>C r.(?) p.(Ser194Pro) - pathogenic (recessive) g.73274296A>G g.75278215A>G - - SLC25A19_000013 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.590G>T r.(?) p.(Ser197Ile) - VUS g.73274286C>A g.75278205C>A - - SLC25A19_000019 - PubMed: Peng 2017 - - Germline - - - - - Johan den Dunnen
-/. - c.643+18C>T r.(=) p.(=) - benign g.73274215G>A g.75278134G>A SLC25A19(NM_001126121.2):c.643+18C>T - SLC25A19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.720del r.(?) p.(Phe240LeufsTer51) - pathogenic g.73273488del g.75277407del SLC25A19(NM_001126121.2):c.720del (p.(Phe240Leufs*51)), SLC25A19(NM_021734.4):c.720delC (p.F240Lfs*51) - SLC25A19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.720del r.(?) p.Phe240Leufs*51 ACMG likely pathogenic g.73273488del g.75277407del - - SLC25A19_000003 ACMG grading: PVS1,PM2; not regarded causative for phenotype, no second variant in SLC25A19 detected - - rs773629986 Germline - - - - - Andreas Laner
+?/. - c.720del r.(?) p.(Phe240LeufsTer51) - likely pathogenic g.73273488del - SLC25A19(NM_001126121.2):c.720del (p.(Phe240Leufs*51)), SLC25A19(NM_021734.4):c.720delC (p.F240Lfs*51) - SLC25A19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.775-1780_*2531del r.0? p.0? - pathogenic (recessive) g.73267002_73271501del g.75270921_75275420del - - SLC25A19_000010 - PubMed: Lionel 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.797T>G r.(?) p.(Met266Arg) - VUS g.73269698A>C g.75273617A>C SLC25A19(NM_001126121.2):c.797T>G (p.(Met266Arg)), SLC25A19(NM_001126122.1):c.797T>G (p.M266R) - MIF4GD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.797T>G r.(?) p.(Met266Arg) - VUS g.73269698A>C - SLC25A19(NM_001126121.2):c.797T>G (p.(Met266Arg)), SLC25A19(NM_001126122.1):c.797T>G (p.M266R) - MIF4GD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.819G>A r.(?) p.(Leu273=) - benign g.73269676C>T g.75273595C>T MIF4GD-DT(NR_036520.1):n.2297C>T, SLC25A19(NM_001126121.2):c.819G>A (p.L273=) - SLC25A19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.819G>A r.(?) p.(Leu273=) - benign g.73269676C>T g.75273595C>T MIF4GD-DT(NR_036520.1):n.2297C>T, SLC25A19(NM_001126121.2):c.819G>A (p.L273=) - SLC25A19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.842T>G r.(?) p.(Phe281Cys) - likely benign g.73269653A>C - SLC25A19(NM_001126121.2):c.842T>G (p.(Phe281Cys)), SLC25A19(NM_021734.4):c.842T>G (p.F281C) - MIF4GD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.842T>G r.(?) p.(Phe281Cys) - VUS g.73269653A>C - SLC25A19(NM_001126121.2):c.842T>G (p.(Phe281Cys)), SLC25A19(NM_021734.4):c.842T>G (p.F281C) - MIF4GD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 8 c.869T>A r.(?) p.(Leu290Gln) - VUS g.73269626A>T g.75273545A>T - - SLC25A19_000018 - PubMed: Ganapathy 2019 - rs750590533 Germline - - - - - Johan den Dunnen
-?/. - c.903C>T r.(?) p.(Phe301=) - likely benign g.73269592G>A g.75273511G>A SLC25A19(NM_001126121.2):c.903C>T (p.F301=) - MIF4GD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*2T>C r.(=) p.(=) - benign g.73269530A>G g.75273449A>G MIF4GD-DT(NR_036520.1):n.2151A>G, SLC25A19(NM_001126121.2):c.*2T>C - SLC25A19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*2T>C r.(=) p.(=) - benign g.73269530A>G g.75273449A>G MIF4GD-DT(NR_036520.1):n.2151A>G, SLC25A19(NM_001126121.2):c.*2T>C - SLC25A19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5602G>A r.(=) p.(=) - VUS g.73263930C>T g.75267849C>T MIF4GD(NM_001242498.1):c.368G>A (p.R123Q) - MIF4GD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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