Unique 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     

Reported     

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     
-?/. 1 - c.112-12G>A r.(=) p.(=) - likely benign g.37163421C>T g.36767377C>T IFT27(NM_001177701.2):c.115-12G>A - IFT27_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.112-5G>A r.spl? p.? - VUS g.37163414C>T g.36767370C>T IFT27(NM_001177701.2):c.115-5G>A - IFT27_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/., -?/. 2 - c.159G>A r.(?) p.(Thr53=) - benign, likely benign g.37163362C>T g.36767318C>T IFT27(NM_001177701.2):c.162G>A (p.T54=) - IFT27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.195T>C r.(?) p.(Ala65=) - benign g.37162218A>G g.36766174A>G IFT27(NM_001177701.2):c.198T>C (p.A66=) - IFT27_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.213G>A r.(?) p.(Ser71=) - benign g.37162200C>T g.36766156C>T IFT27(NM_001177701.2):c.216G>A (p.S72=) - IFT27_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.232-15G>A r.(=) p.(=) - likely benign g.37160095C>T g.36764051C>T IFT27(NM_001177701.2):c.235-15G>A - IFT27_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.319C>T r.(?) p.(Arg107Trp) - VUS g.37159993G>A g.36763949G>A IFT27(NM_001177701.2):c.322C>T (p.R108W) - IFT27_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
+/. 1 - c.349+1G>T r.spl? p.? - pathogenic g.37159962C>A g.36763918C>A IFT27(NM_001177701.2):c.352+1G>T - IFT27_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.412C>T r.(?) p.(Arg138Trp) - benign g.37158995G>A g.36762951G>A - - IFT27_000013 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs112218090 Germline - 5/2795 individuals - - - Mohammed Faruq
-/. 1 - c.422C>T r.(?) p.(Ala141Val) - benign g.37158985G>A g.36762941G>A IFT27(NM_001177701.2):c.425C>T (p.A142V) - IFT27_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.545G>A r.(?) p.(Arg182Gln) - likely benign g.37154368C>T g.36758324C>T IFT27(NM_001177701.2):c.548G>A (p.R183Q) - IFT27_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*2G>A r.(=) p.(=) - benign g.37154353C>T g.36758309C>T IFT27(NM_001177701.2):c.*2G>A - IFT27_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*5dup r.(?) p.(=) - VUS g.37154350dup g.36758306dup IFT27(NM_001177701.2):c.*5dupC - IFT27_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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