All variants in the SDHAF1 gene

Information The variants shown are described using the NM_001042631.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.170G>A r.(?) p.(Gly57Glu) - likely pathogenic g.36486346G>A g.35995444G>A - - SDHAF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.269= r.(=) p.(Ser90=) - benign g.36486445G>C g.35995543G>C SDHAF1(NM_001042631.2):c.269G>C (p.C90S) - SDHAF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.334C>T r.(?) p.(Pro112Ser) - VUS g.36486510C>T g.35995608C>T SDHAF1(NM_001042631.2):c.334C>T (p.P112S) - SDHAF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.344G>T r.(?) p.(Arg115Leu) - VUS g.36486520G>T g.35995618G>T SDHAF1(NM_001042631.2):c.344G>T (p.R115L) - SDHAF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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