Unique variants in gene CTAGE4

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

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     
-?/. 1 - c.1915C>T likely benign r.(?) p.(Pro639Ser) g.143882511C>T - CTAGE4(NM_198495.2):c.1915C>T (p.(Pro639Ser)) - ARHGEF35_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1916C>T likely benign r.(?) p.(Pro639Leu) g.143882512C>T - CTAGE4(NM_198495.2):c.1916C>T (p.(Pro639Leu)) - CTAGE4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1963A>G likely benign r.(?) p.(Arg655Gly) g.143882559A>G - CTAGE4(NM_198495.2):c.1963A>G (p.(Arg655Gly)) - ARHGEF35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2038T>G likely benign r.(?) p.(Ser680Ala) g.143882634T>G - CTAGE4(NM_198495.2):c.2038T>G (p.(Ser680Ala)) - CTAGE4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2143A>C likely benign r.(?) p.(Met715Leu) g.143882739A>C - CTAGE4(NM_198495.2):c.2143A>C (p.M715L) - ARHGEF35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2201G>C likely benign r.(?) p.(Arg734Pro) g.143882797G>C - CTAGE4(NM_198495.2):c.2201G>C (p.(Arg734Pro)) - ARHGEF35_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2218A>G likely benign r.(?) p.(Arg740Gly) g.143882814A>G - CTAGE4(NM_198495.2):c.2218A>G (p.(Arg740Gly)) - ARHGEF35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*1507G>A likely benign r.(=) p.(=) g.143884437G>A - ARHGEF35(NM_001003702.2):c.1040C>T (p.(Thr347Ile)) - ARHGEF35_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*1952C>T VUS r.(=) p.(=) g.143884882C>T - ARHGEF35(NM_001003702.2):c.595G>A (p.A199T) - ARHGEF35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*1988C>G VUS r.(=) p.(=) g.143884918C>G - ARHGEF35(NM_001003702.2):c.559G>C (p.E187Q) - ARHGEF35_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*2011T>C VUS r.(=) p.(=) g.143884941T>C - ARHGEF35(NM_001003702.2):c.536A>G (p.Q179R) - ARHGEF35_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*2497A>G VUS r.(=) p.(=) g.143885427A>G - ARHGEF35(NM_001003702.2):c.50T>C (p.I17T) - ARHGEF35_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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