Unique variants in the CTLA4 gene

Information The variants shown are described using the NM_005214.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
-/., ./. 3 - c.49A>G r.(?) p.(Thr17Ala) - benign, VUS g.204732714A>G g.203867991A>G CTLA4(NM_005214.5):c.49A>G (p.T17A) - CTLA4_000001 VKGL data sharing initiative Nederland, for details see the Uveogene database, 1 more item PubMed: Hagrass 2014, PubMed: Houman 2009 - rs231775 CLASSIFICATION record, Germline - 37/120 cases, 77/270 cases - - - VKGL-NL_Groningen, Peizeng Yang
-/. 2 - c.75G>C r.(?) p.(Leu25=) - benign g.204732740G>C g.203868017G>C CTLA4(NM_001037631.2):c.75G>C (p.(=)), CTLA4(NM_005214.5):c.75G>C (p.L25=) - CTLA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.110-14C>T r.(=) p.(=) - likely benign g.204735295C>T g.203870572C>T CTLA4(NM_005214.4):c.110-14C>T - CTLA4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.209G>A r.(?) p.(Arg70Gln) - VUS g.204735408G>A g.203870685G>A - - CTLA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.231_232del r.(?) p.(Asp78Glnfs*5) - VUS g.204735430_204735431del - CTLA4(NM_005214.5):c.231_232delTG (p.D78Qfs*5) - CTLA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.234_297del r.(?) p.(Asp78Glufs*14) - VUS g.204735433_204735496del - CTLA4(NM_005214.5):c.234_297del (p.D78Efs*14) - CTLA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.409C>A r.(?) p.(Pro137Thr) - likely pathogenic g.204735608C>A - CTLA4(NM_005214.4):c.409C>A (p.(Pro137Thr)) - CTLA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.528_529dup r.(?) p.(Tyr177PhefsTer11) - likely pathogenic g.204736171_204736172dup g.203871448_203871449dup CTLA4(NM_005214.4):c.528_529dupTT (p.Y177Ffs*11) - CTLA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.567+5G>T r.spl? p.? - likely pathogenic g.204736215G>T g.203871492G>T CTLA4(NM_005214.4):c.567+5G>T - CTLA4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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