All transcript variants in gene SLC25A22

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

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

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     
-?/. - c.-6089A>C likely benign r.(?) p.(=) g.803537T>G - PIDD(NM_145886.3):c.346A>C (p.(Asn116His)) - PIDD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-4183dup VUS r.(?) p.(=) g.801631dup - PIDD(NM_145886.3):c.1303-7_1303-6insA (p.(=)) - PIDD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-163-1G>A VUS r.spl? p.? g.795170C>T - SLC25A22(NM_001191060.1):c.-163-1G>A - PIDD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.132C>T likely benign r.(?) p.(=) 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 likely benign r.(?) p.(=) 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 likely benign r.(?) p.(=) 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 likely benign r.(?) p.(Val57Ile) g.794491C>T - SLC25A22(NM_001191060.1):c.169G>A (p.V57I) - SLC25A22_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.294-14C>T likely benign r.(=) p.(=) g.793002G>A - SLC25A22(NM_001191060.1):c.294-14C>T - SLC25A22_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.327G>A likely benign r.(?) p.(=) 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 likely benign r.(?) p.(=) 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 likely benign r.spl? p.? g.792867C>T - SLC25A22(NM_001191060.1):c.412+3G>A (p.?) - CEND1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.412+10G>T benign r.(=) p.(=) g.792860C>A - SLC25A22(NM_001191060.1):c.412+10G>T - SLC25A22_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.448C>G benign r.(?) p.(Leu150Val) g.792692G>C - SLC25A22(NM_001191060.1):c.448C>G (p.L150V) - SLC25A22_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.550G>A VUS r.(?) p.(Ala184Thr) g.792590C>T - SLC25A22(NM_001191060.1):c.550G>A (p.A184T) - SLC25A22_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.561C>T benign r.(?) p.(=) g.792579G>A - - - SLC25A22_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.646C>T VUS r.(?) p.(Arg216Cys) g.792400G>A - SLC25A22(NM_001191060.1):c.646C>T (p.R216C) - SLC25A22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.705T>C likely benign r.(?) p.(=) g.792341A>G - SLC25A22(NM_001191060.1):c.705T>C (p.A235=) - CEND1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.731A>G likely benign r.(?) p.(Asn244Ser) g.792315T>C - SLC25A22(NM_001191060.1):c.731A>G (p.N244S) - SLC25A22_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.734C>G VUS r.(?) p.(Pro245Arg) g.792312G>C - SLC25A22(NM_001191060.1):c.734C>G (p.(Pro245Arg)) - CEND1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.755G>A VUS r.(?) p.(Arg252Gln) g.792205C>T - - - SLC25A22_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.772C>T likely benign r.(?) p.(Arg258*) g.792188G>A - SLC25A22(NM_001191060.1):c.772C>T (p.R258*) - SLC25A22_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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