Transcript #00024159

Transcript name transcript variant 1
Gene name RUNX2 (runt-related transcription factor 2)
Chromosome 6
Transcript - NCBI ID NM_001024630.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001019801.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

22 entries on 1 page. Showing entries 1 - 22.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.58+97T>C VUS r.(=) p.(=)
-?/. - c.174_206del likely benign r.(?) p.(Gln61_Gln71del)
-/. - c.240G>A benign r.(?) p.(=)
-?/. - c.243_260del likely benign r.(?) p.(Ala84_Ala89del)
-/. - c.243_260del benign r.(?) p.(Ala84_Ala89del)
-?/. - c.246_248del likely benign r.(?) p.(Ala89del)
+?/. - c.346A>G likely pathogenic r.(?) p.(Thr116Ala)
+/. - c.368G>A pathogenic r.(?) p.(Cys123Tyr)
+/. 3 c.400A>G - r.(?) p.(Lys134Glu)
-/. - c.423+39G>C benign r.(=) p.(=)
+/. 3i_4i c.(423+1_424-1)_(580+1_581-1)del - r.? p.?
+/. - c.625C>T pathogenic r.(?) p.(Gln209*)
+/. - c.674G>A pathogenic r.(?) p.(Arg225Gln)
?/. 7 c.896A>G - r.(?) p.(Tyr299Cys)
-?/. - c.1021+46G>A likely benign r.(=) p.(=)
-/. - c.1087+17T>C benign r.(=) p.(=)
+?/. - c.1088-1G>A likely pathogenic r.spl? p.?
+/. - c.1208dup pathogenic r.(?) p.(Val404Serfs*86)
+/. - c.1264del - r.(?) p.(Leu422Cysfs*62)
?/. - c.1357T>C VUS r.(?) p.(Ser453Pro)
?/. - c.1461G>T VUS r.(?) p.(Leu487Phe)
-?/. - c.1531G>A likely benign r.(?) p.(Gly511Ser)
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