All variants in the SIAH1 gene

Information The variants shown are described using the NM_001006610.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+?/. - c.214T>G r.(?) p.(Cys72Gly) - likely pathogenic (dominant) g.48396219A>C g.48362308A>C NM_003031.3:c.121T>G - SIAH1_000005 - PubMed: Buratti 2021 - - De novo - - - - - Johan den Dunnen
+?/. - c.242C>T r.(?) p.(Pro81Leu) - likely pathogenic (dominant) g.48396191G>A g.48362280G>A NM_003031.3:c.149C>T - SIAH1_000004 - PubMed: Buratti 2021 - - De novo - - - - - Johan den Dunnen
+?/. - c.476G>T r.(?) p.(Cys159Phe) - likely pathogenic (dominant) g.48395957C>A g.48362046C>A NM_003031.3:c.383G>T - SIAH1_000003 - PubMed: Buratti 2021 - - De novo - - - - - Johan den Dunnen
?/. - c.526A>G r.(?) p.(Met176Val) - VUS g.48395907T>C g.48361996T>C - - LONP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.595A>G r.(?) p.(Thr199Ala) - likely pathogenic (dominant) g.48395838T>C g.48361927T>C NM_003031.3:c.502A>G - SIAH1_000002 - PubMed: Buratti 2021 - - De novo - - - - - Johan den Dunnen
+?/. - c.613G>C r.(?) p.(Gly205Arg) - likely pathogenic (dominant) g.48395820C>G g.48361909C>G NM_003031.3:c.520G>C - SIAH1_000001 - PubMed: Buratti 2021 - - De novo - - - - - Johan den Dunnen
?/. - c.737G>T r.(?) p.(Arg246Leu) - VUS g.48395696C>A - SIAH1(NM_001006610.2):c.737G>T (p.R246L) - LONP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.824A>G r.(?) p.(His275Arg) - VUS g.48395609T>C - SIAH1(NM_003031.4):c.731A>G (p.H244R) - LONP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.*9932C>T r.(=) p.(=) - VUS g.48385559G>A - LONP2(NM_031490.5):c.2405G>A (p.(Arg802Gln)) - LONP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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