Transcript #00019204

Transcript name transcript variant 1
Gene name SLC25A22 (solute carrier family 25 (mitochondrial carrier: glutamate), member 22)
Chromosome 11
Transcript - NCBI ID NM_001191060.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001177989.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

21 entries on 1 page. Showing entries 1 - 21.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-6089A>C likely benign r.(?) p.(=)
?/. - c.-4183dup VUS r.(?) p.(=)
?/. - c.-163-1G>A VUS r.spl? p.?
-?/. - c.132C>T likely benign r.(?) p.(=)
-?/. - c.132C>T likely benign r.(?) p.(=)
-?/. - c.132C>T likely benign r.(?) p.(=)
-?/. - c.169G>A likely benign r.(?) p.(Val57Ile)
-?/. - c.294-14C>T likely benign r.(=) p.(=)
-?/. - c.327G>A likely benign r.(?) p.(=)
-?/. - c.327G>A likely benign r.(?) p.(=)
-?/. - c.412+3G>A likely benign r.spl? p.?
-/. - c.412+10G>T benign r.(=) p.(=)
-/. - c.448C>G benign r.(?) p.(Leu150Val)
?/. - c.550G>A VUS r.(?) p.(Ala184Thr)
-/. - c.561C>T benign r.(?) p.(=)
?/. - c.646C>T VUS r.(?) p.(Arg216Cys)
-?/. - c.705T>C likely benign r.(?) p.(=)
-?/. - c.731A>G likely benign r.(?) p.(Asn244Ser)
?/. - c.734C>G VUS r.(?) p.(Pro245Arg)
?/. - c.755G>A VUS r.(?) p.(Arg252Gln)
-?/. - c.772C>T likely benign r.(?) p.(Arg258*)
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