All transcript variants in gene SLC25A22

Information The variants shown are described using the NM_001191060.1 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.-6089A>C r.(?) p.(=) - likely benign g.803537T>G g.803537T>G PIDD(NM_145886.3):c.346A>C (p.(Asn116His)) - PIDD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-4183dup r.(?) p.(=) - VUS g.801631dup g.801631dup PIDD(NM_145886.3):c.1303-7_1303-6insA (p.(=)) - PIDD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-163-1G>A r.spl? p.? - VUS g.795170C>T g.795170C>T SLC25A22(NM_001191060.1):c.-163-1G>A - PIDD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-141G>A r.(=) p.(=) - VUS g.795147C>T g.795147C>T - - SLC25A22_000013 35 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs79919483 Germline - 35/2794 individuals - 0 - Mohammed Faruq
-?/. - c.132C>T r.(?) p.(Arg44=) - likely benign g.794790G>A g.794790G>A SLC25A22(NM_001191060.1):c.132C>T (p.R44=) - SLC25A22_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.132C>T r.(?) p.(Arg44=) - likely benign g.794790G>A g.794790G>A SLC25A22(NM_001191060.1):c.132C>T (p.R44=) - SLC25A22_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.132C>T r.(?) p.(Arg44=) - likely benign g.794790G>A g.794790G>A SLC25A22(NM_001191060.1):c.132C>T (p.R44=) - SLC25A22_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.169G>A r.(?) p.(Val57Ile) - likely benign g.794491C>T g.794491C>T SLC25A22(NM_001191060.1):c.169G>A (p.V57I) - SLC25A22_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.294-14C>T r.(=) p.(=) - likely benign g.793002G>A g.793002G>A SLC25A22(NM_001191060.1):c.294-14C>T - SLC25A22_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.327G>A r.(?) p.(Ala109=) - likely benign g.792955C>T g.792955C>T SLC25A22(NM_001191060.1):c.327G>A (p.A109=) - CEND1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.327G>A r.(?) p.(Ala109=) - likely benign g.792955C>T g.792955C>T SLC25A22(NM_001191060.1):c.327G>A (p.A109=) - CEND1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.412+3G>A r.spl? p.? - likely benign g.792867C>T g.792867C>T SLC25A22(NM_001191060.1):c.412+3G>A (p.?) - CEND1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.412+10G>T r.(=) p.(=) - benign g.792860C>A g.792860C>A SLC25A22(NM_001191060.1):c.412+10G>T - SLC25A22_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.448C>G r.(?) p.(Leu150Val) - benign g.792692G>C g.792692G>C SLC25A22(NM_001191060.1):c.448C>G (p.L150V) - SLC25A22_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.524G>A r.(?) p.(Arg175His) - VUS g.792616C>T g.792616C>T SLC25A22(NM_001191060.1):c.524G>A (p.R175H) - CEND1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.550G>A r.(?) p.(Ala184Thr) - VUS g.792590C>T g.792590C>T SLC25A22(NM_001191060.1):c.550G>A (p.A184T) - SLC25A22_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.561C>T r.(?) p.(Tyr187=) - benign g.792579G>A g.792579G>A - - SLC25A22_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.570C>T r.(?) p.(Leu190=) - likely benign g.792570G>A g.792570G>A SLC25A22(NM_001191060.1):c.570C>T (p.L190=) - CEND1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.646C>T r.(?) p.(Arg216Cys) - VUS g.792400G>A g.792400G>A SLC25A22(NM_001191060.1):c.646C>T (p.R216C) - SLC25A22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.705T>C r.(?) p.(Ala235=) - likely benign g.792341A>G g.792341A>G SLC25A22(NM_001191060.1):c.705T>C (p.A235=) - CEND1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.731A>G r.(?) p.(Asn244Ser) - likely benign g.792315T>C g.792315T>C SLC25A22(NM_001191060.1):c.731A>G (p.N244S) - SLC25A22_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.734C>G r.(?) p.(Pro245Arg) - VUS g.792312G>C g.792312G>C SLC25A22(NM_001191060.1):c.734C>G (p.(Pro245Arg)) - CEND1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.755G>A r.(?) p.(Arg252Gln) - VUS g.792205C>T g.792205C>T - - SLC25A22_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.772C>T r.(?) p.(Arg258Ter) - likely benign g.792188G>A g.792188G>A SLC25A22(NM_001191060.1):c.772C>T (p.R258*) - SLC25A22_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.834C>T r.(?) p.(His278=) - - g.792053G>A - SLC25A22(NM_001191060.1):c.834C>T (p.H278=) - chr11_006813 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.835dup r.(?) p.(Glu279Glyfs*138) - likely pathogenic (recessive) g.792052dup g.792052dup 835dupG - SLC25A22_000012 - - - - Germline - - - 0 - Laurent Villard
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