Unique variants in gene SIX5

Information The variants shown are described using the NM_175875.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.43G>T likely benign r.(?) p.(Gly15Trp) g.46272060C>A - SIX5:NM_175875.4:c.43G>T - SIX5_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.81G>A likely benign r.(=) p.(=) g.46272022C>T - SIX5:c.81G>A (E27=) - SIX5_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.675C>A - r.(?) p.(Tyr225*) g.46271428G>T g.45768170G>T - - SIX5_000001 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.732G>A benign r.(=) p.(=) g.46271371C>T - SIX5:NM_175875.4::c.732G>A (=) - SIX5_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.886G>A likely benign r.(?) p.(Ala296Thr) g.46270331C>T - SIX5:NM_175875.3:c.886G>A (Ala296Thr) - SIX5_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1091G>T likely benign r.(?) p.(Gly364Val) g.46270126C>A - SIX5:NM_175875.4:c.1091G>T, DMPK:NM_001081560.1:c.*3620G>T, NM_001081562.1:c.*3613G>T, … - SIX5_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1478C>T likely benign r.(?) p.(Pro493Leu) g.46269739G>A - SIX5:NM_175875.4:c.1478C>T (Pro493Leu) - SIX5_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1655C>T VUS r.(?) p.(Thr552Met) g.46269324G>A - SIX5:NM_175875.4:c.1655C>T (Thr552Met) - SIX5_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1656G>A likely benign r.(=) p.(=) g.46269323C>T - SIX5:c.1656G>A (T552=) - SIX5_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1666C>G benign r.(?) p.(Leu556Val) g.46269313G>C - SIX5:c.1666C>G (L556V) - SIX5_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1666G>C benign - - g.46269313C>G - SIX5:NM_175875.3:c.1666G>C (Val556Leu) - SIX5_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1773G>T likely benign r.(=) p.(=) g.46269206C>A - SIX5:c.1773G>T (T591=) - SIX5_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1903C>T benign r.(?) p.(Pro635Ser) g.46269076G>A - SIX5:NM_175875.3:c.1903C>T (Pro635Ser) - SIX5_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1979C>A benign r.(?) p.(Ala660Glu) g.46269000G>T - SIX5:c.1979C>A (A660E) - SIX5_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2015G>A VUS r.(?) p.(Ser672Asn) g.46268964C>T - SIX5:c.2015G>A (S672N) - SIX5_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2077G>A benign r.(?) p.(Val693Met) g.46268902C>T - SIX5:c.2077G>A (V693M), SIX5:NM_175875.3:c.2077G>A (Val693Met) - SIX5_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.2088G>A likely benign r.(=) p.(=) g.46268891C>T - SIX5:c.2088G>A (L696=) - SIX5_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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