Transcript #00018957

Transcript name SIX homeobox 5
Gene name SIX5 (SIX homeobox 5)
Chromosome 19
Transcript - NCBI ID NM_175875.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_787071.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.43G>T likely benign r.(?) p.(Gly15Trp)
-?/. - c.81G>A likely benign r.(=) p.(=)
+/. - c.675C>A - r.(?) p.(Tyr225*)
-/. - c.732G>A benign r.(=) p.(=)
-?/. - c.886G>A likely benign r.(?) p.(Ala296Thr)
-?/. - c.1091G>T likely benign r.(?) p.(Gly364Val)
-?/. - c.1091G>T likely benign r.(?) p.(Gly364Val)
-?/. - c.1478C>T likely benign r.(?) p.(Pro493Leu)
?/. - c.1655C>T VUS r.(?) p.(Thr552Met)
-?/. - c.1656G>A likely benign r.(=) p.(=)
-/. - c.1666C>G benign r.(?) p.(Leu556Val)
-/. - c.1666G>C benign - -
-?/. - c.1773G>T likely benign r.(=) p.(=)
-/. - c.1903C>T benign r.(?) p.(Pro635Ser)
-/. - c.1979C>A benign r.(?) p.(Ala660Glu)
?/. - c.2015G>A VUS r.(?) p.(Ser672Asn)
-/. - c.2077G>A benign r.(?) p.(Val693Met)
-/. - c.2077G>A benign r.(?) p.(Val693Met)
-/. - c.2077G>A benign r.(?) p.(Val693Met)
-?/. - c.2088G>A likely benign r.(=) p.(=)
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