Transcript #00024198

Transcript name transcript variant 1
Gene name HARS2 (histidyl-tRNA synthetase 2, mitochondrial)
Chromosome 5
Transcript - NCBI ID NM_012208.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036340.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

61 entries on 1 page. Showing entries 1 - 61.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-16242710_*5639148dup - - -
-?/. - c.-20340G>C likely benign r.(?) p.(=)
-?/. - c.-20327C>T likely benign r.(?) p.(=)
-?/. - c.-20148C>T likely benign r.(?) p.(=)
-/. - c.-16977C>T benign r.(?) p.(=)
-/. - c.-16977C>T benign r.(?) p.(=)
?/. - c.-16957G>A VUS r.(?) p.(=)
?/. - c.-16630T>C VUS r.(?) p.(=)
-?/. - c.-16522C>T likely benign r.(?) p.(=)
+/. - c.-14996C>T pathogenic r.(?) p.(=)
?/. - c.-14957C>A VUS r.(?) p.(=)
-/. - c.-14928T>C benign r.(?) p.(=)
?/. - c.-14857C>T VUS r.(?) p.(=)
-/. - c.-14679C>T benign r.(?) p.(=)
-/. - c.-14612G>A benign r.(?) p.(=)
-?/. - c.-14543G>T likely benign r.(?) p.(=)
-?/. - c.-13978A>G likely benign r.(?) p.(=)
?/. - c.-13978A>G VUS r.(?) p.(=)
-/. - c.-13725C>T benign r.(?) p.(=)
?/. - c.-13725C>T VUS r.(?) p.(=)
-/. - c.-13699G>A benign r.(?) p.(=)
+?/. - c.-12535C>T likely pathogenic r.(?) p.(=)
?/. - c.-11847G>A VUS r.(?) p.(=)
?/. - c.-11847G>A VUS r.(?) p.(=)
?/. - c.-11805T>C VUS r.(?) p.(=)
-?/. - c.-8546T>C likely benign r.(?) p.(=)
-?/. - c.-8495A>C likely benign r.(?) p.(=)
-/. - c.-8483G>A benign r.(?) p.(=)
?/. - c.-8452C>T VUS r.(?) p.(=)
+?/. - c.-8447del likely pathogenic r.(?) p.(=)
+?/. - c.-8445_-8443del likely pathogenic r.(?) p.(=)
+?/. - c.-8440dup likely pathogenic r.(?) p.(=)
-/. - c.-8415C>G benign r.(?) p.(=)
?/. - c.-793T>G VUS r.(?) p.(=)
?/. - c.-438T>G VUS r.(?) p.(=)
?/. - c.-433A>C VUS r.(?) p.(=)
?/. - c.-384G>T VUS r.(?) p.(=)
-/. - c.-358G>T benign r.(?) p.(=)
-/. - c.-358G>T benign r.(?) p.(=)
-?/. - c.-358G>T likely benign r.(?) p.(=)
-/. - c.-339C>A benign r.(?) p.(=)
-?/. - c.7C>G likely benign r.(?) p.(Leu3Val)
-?/. - c.324T>C likely benign r.(?) p.(=)
?/. - c.367G>A VUS r.(?) p.(Gly123Arg)
?/. - c.389A>G VUS r.(?) p.(Tyr130Cys)
-/. - c.399+18G>A benign r.(=) p.(=)
?/. - c.413G>A VUS r.(?) p.(Arg138His)
+/. - c.489dup pathogenic r.(?) p.(Ile164Hisfs*7)
-?/. - c.564C>T likely benign r.(?) p.(=)
-?/. - c.613T>C likely benign r.(?) p.(=)
?/. - c.956T>C VUS r.(?) p.(Ile319Thr)
+/. 10 c.1010A>G - r.(?) p.(Tyr337Cys)
+/. 10 c.1010A>G - r.(?) p.(Tyr337Cys)
?/. - c.1017A>G VUS r.(?) p.(=)
?/. - c.1039C>G VUS r.(?) p.(Gln347Glu)
-?/. - c.1105G>C likely benign r.(?) p.(Gly369Arg)
?/. - c.1105G>C VUS r.(?) p.(Gly369Arg)
-?/. - c.1254G>C likely benign r.(?) p.(Gln418His)
-?/. - c.1281G>A likely benign r.(?) p.(=)
?/. - c.1421A>G VUS r.(?) p.(Glu474Gly)
?/. - c.1439G>A VUS r.(?) p.(Arg480His)
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