Full data view for gene KARS

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

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

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.63-2684A>T VUS r.(=) p.(=) Unknown g.75678305T>A - KARS:c.22A>T (R8W) - KARS_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.75A>G benign r.(=) p.(=) Unknown g.75675609T>C - KARS:c.159A>G (=) - KARS_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-7del benign r.(=) p.(=) Unknown g.75674254del - KARS:c.307-7delT - KARS_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-7del benign r.(=) p.(=) Unknown g.75674254del - KARS:c.307-7delT - KARS_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-7_223-6del benign r.(=) p.(=) Unknown g.75674253_75674254del - KARS:c.307-7_307-6delTT - KARS_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-7_223-6del benign r.(=) p.(=) Unknown g.75674253_75674254del - KARS:c.307-7_307-6delTT - KARS_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-6del benign r.(=) p.(=) Unknown g.75674253del - KARS:c.307-6delT - KARS_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-6del benign r.(=) p.(=) Unknown g.75674253del - KARS:c.307-6delT - KARS_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.223-6del benign r.(=) p.(=) Unknown g.75674253del - KARS:c.307-6delT - KARS_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.239G>A likely pathogenic r.(?) p.(Arg80His) Unknown g.75674231C>T - KARS:c.323G>A (R108H) - KARS_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.370A>G VUS r.(?) p.(Ile124Val) Unknown g.75674100T>C - KARS:c.454A>G (I152V) - KARS_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.612A>G benign r.(=) p.(=) Unknown g.75669867T>C - KARS:c.696A>G (=) - KARS_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.787T>G VUS r.(?) p.(Phe263Val) Unknown g.75669586A>C - KARS:NM_001130089.1:c.871T>G (Phe291Val) - KARS_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.941G>A VUS r.(?) p.(Arg314Gln) Unknown g.75665728C>T - KARS:c.1025G>A (R342Q) - KARS_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.944T>C VUS r.(?) p.(Val315Ala) Unknown g.75665725A>G - KARS:NM_001130089.1:c.1028T>C (Val343Ala) - KARS_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1079-7C>T benign r.(=) p.(=) Unknown g.75665494G>A - KARS:c.1163-7C>T - KARS_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1178G>A VUS r.(?) p.(Arg393Gln) Unknown g.75665388C>T - KARS:c.1262G>A (R421Q) - KARS_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1178G>A VUS r.(?) p.(Arg393Gln) Unknown g.75665388C>T - KARS:c.1262G>A (R421Q) - KARS_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1342G>T likely pathogenic r.(?) p.(Val448Phe) Unknown g.75664403C>A - KARS:c.1426G>T (V476F) - KARS_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1634C>T VUS r.(?) p.(Ala545Val) Unknown g.75662528G>A - KARS:c.1718C>T (A573V) - KARS_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1784C>G benign r.(?) p.(Thr595Ser) Unknown g.75661803G>C - KARS:c.1868C>G (T623S) - KARS_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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