All transcript variants in gene IFT27

Information The variants shown are described using the NM_006860.4 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

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     
-?/. - c.112-12G>A likely benign r.(=) p.(=) g.37163421C>T - IFT27(NM_001177701.2):c.115-12G>A - IFT27_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.112-5G>A VUS r.spl? p.? g.37163414C>T - IFT27(NM_001177701.2):c.115-5G>A - IFT27_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.159G>A benign r.(?) p.(=) g.37163362C>T - IFT27(NM_001177701.2):c.162G>A (p.T54=) - IFT27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.195T>C benign r.(?) p.(=) g.37162218A>G - IFT27(NM_001177701.2):c.198T>C (p.A66=) - IFT27_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.213G>A benign r.(?) p.(=) g.37162200C>T - IFT27(NM_001177701.2):c.216G>A (p.S72=) - IFT27_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.232-15G>A likely benign r.(=) p.(=) g.37160095C>T - IFT27(NM_001177701.2):c.235-15G>A - IFT27_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.319C>T VUS r.(?) p.(Arg107Trp) g.37159993G>A - IFT27(NM_001177701.2):c.322C>T (p.R108W) - IFT27_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.319C>T VUS r.(?) p.(Arg107Trp) g.37159993G>A - IFT27(NM_001177701.2):c.322C>T (p.R108W) - IFT27_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.349+1G>T pathogenic r.spl? p.? g.37159962C>A - IFT27(NM_001177701.2):c.352+1G>T - IFT27_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.422C>T benign r.(?) p.(Ala141Val) g.37158985G>A - IFT27(NM_001177701.2):c.425C>T (p.A142V) - IFT27_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.545G>A likely benign r.(?) p.(Arg182Gln) g.37154368C>T - IFT27(NM_001177701.2):c.548G>A (p.R183Q) - IFT27_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*2G>A benign r.(=) p.(=) g.37154353C>T - IFT27(NM_001177701.2):c.*2G>A - IFT27_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*5dup VUS r.(?) p.(=) g.37154350dup - IFT27(NM_001177701.2):c.*5dupC - IFT27_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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