All transcript variants in gene CTAGE4

Information The variants shown are described using the NM_198495.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.2143A>C r.(?) p.(Met715Leu) - likely benign g.143882739A>C g.144185646A>C CTAGE4(NM_198495.2):c.2143A>C (p.M715L) - ARHGEF35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2201G>C r.(?) p.(Arg734Pro) - likely benign g.143882797G>C g.144185704G>C CTAGE4(NM_198495.2):c.2201G>C (p.(Arg734Pro)) - ARHGEF35_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*1952C>T r.(=) p.(=) - VUS g.143884882C>T g.144187789C>T ARHGEF35(NM_001003702.2):c.595G>A (p.A199T) - ARHGEF35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1988C>G r.(=) p.(=) - VUS g.143884918C>G g.144187825C>G ARHGEF35(NM_001003702.2):c.559G>C (p.E187Q) - ARHGEF35_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2011T>C r.(=) p.(=) - VUS g.143884941T>C g.144187848T>C ARHGEF35(NM_001003702.2):c.536A>G (p.Q179R) - ARHGEF35_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2497A>G r.(=) p.(=) - VUS g.143885427A>G g.144188334A>G ARHGEF35(NM_001003702.2):c.50T>C (p.I17T) - ARHGEF35_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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