Full data view for gene CD55

Information The variants shown are described using the NM_000574.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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+/. - c.43del r.(?) p.(Leu15Serfs*46) Both (homozygous) - pathogenic (recessive) g.207495153del g.207321808del - - CD55_000027 - PubMed: Kurolap 2017 ClinVar-SCV000579315 - Germline yes - - - - DNA SEQ, SEQ-NG - WES CHAPLE, NDD Fam;Pat1 PubMed: Kurolap 2017, PubMed: Kurolap 2022 multi-generation family, 1 NDD affected, unaffected heterozygous carrier parents M yes Israel Muslim Arab - - - - 1 Johan den Dunnen
+/. - c.43del r.(?) p.(Leu15Serfs*46) Both (homozygous) - pathogenic (recessive) g.207495153del g.207321808del - - CD55_000027 - PubMed: Kurolap 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CHAPLE Fam PubMed: Kurolap 2017 5-generation family, 6 affected (4F, 2M) F;M yes Israel Muslim;Arab - - - - 6 Johan den Dunnen
+/. - c.110del r.(?) p.(Gly37AlafsTer24) Both (homozygous) - pathogenic (recessive) g.207495736del g.207322391del c.109delG - CD55_000031 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHAPLE Fam2Pat2 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.110del r.(?) p.(Gly37AlafsTer24) Both (homozygous) - pathogenic (recessive) g.207495736del g.207322391del c.109delG - CD55_000031 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHAPLE Fam3Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.110del r.(?) p.(Gly37AlafsTer24) Both (homozygous) - pathogenic (recessive) g.207495736del g.207322391del c.109delG - CD55_000031 - PubMed: Ozen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CHAPLE Fam5Pat1 PubMed: Ozen 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.149_150delinsCCTT r.(?) p.(Glu50AlafsTer12) Both (homozygous) - pathogenic (recessive) g.207495775_207495776delinsCCTT g.207322430_207322431delinsCCTT c.149_150delAAinsCCTT - CD55_000032 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHAPLE Fam1Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.149_150delinsCCTT r.(?) p.(Glu50AlafsTer12) Both (homozygous) - pathogenic (recessive) g.207495775_207495776delinsCCTT g.207322430_207322431delinsCCTT c.149_150delAAinsCCTT - CD55_000032 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ - - CHAPLE Fam7Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Syria - - - - - 1 Johan den Dunnen
-?/. - c.155G>C r.(?) p.(Arg52Pro) Unknown - likely benign g.207495781G>C g.207322436G>C CD55(NM_001114752.2):c.155G>C (p.R52P), CD55(NM_001114752.3):c.155G>C (p.R52P) - CD55_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155G>C r.(?) p.(Arg52Pro) Unknown - likely benign g.207495781G>C - CD55(NM_001114752.2):c.155G>C (p.R52P), CD55(NM_001114752.3):c.155G>C (p.R52P) - CD55_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255T>C r.(?) p.(Ser85=) Unknown - likely benign g.207495881T>C - CD55(NM_001114752.3):c.255T>C (p.S85=) - CD55_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.261G>A r.261g>a p.Trp87* Both (homozygous) - pathogenic (recessive) g.207495887G>A - 314G>A (Trp53*) - CD55_000028 - PubMed: Lublin 1994 - - Germline - - BclI+ - - DNA, RNA RT-PCR, SEQ - - CHAPLE, CROM Inab PubMed: Lublin 1994 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.261G>A r.(?) p.(Trp87*) Both (homozygous) - pathogenic (recessive) g.207495887G>A - G314A (Trp53*) - CD55_000028 - PubMed: Daniels 1998 - - Germline - - - - - DNA SEQ - - CHAPLE, CROM Osad PubMed: Daniels 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+?/. 2 c.263C>A r.261_286del p.Ser88* Both (homozygous) - likely benign (!) g.207495889C>A - C1579A - CD55_000030 - PubMed: Wang 1998 - rs1131690771 Germline - - - - - DNA, RNA RT-PCR, SEQ - - CROM HA PubMed: Wang 1998 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.286+1G>A r.spl p.? Unknown ACMG pathogenic g.207495913G>A g.207322568G>A - - CD55_000044 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 074197 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.287-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.207497903G>A g.207324558G>A - - CD55_000033 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ - - CHAPLE Fam6Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.294C>T r.(?) p.(Cys98=) Unknown - likely benign g.207497911C>T - CD55(NM_000574.3):c.294C>T (p.C98=), CD55(NM_001114752.2):c.294C>T (p.C98=) - CD55_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294C>T r.(?) p.(Cys98=) Unknown - likely benign g.207497911C>T - CD55(NM_000574.3):c.294C>T (p.C98=), CD55(NM_001114752.2):c.294C>T (p.C98=) - CD55_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.367dup r.(?) p.(Thr123Asnfs*6) Unknown - pathogenic g.207497984dup - CD55(NM_000574.5):c.367dupA (p.T123Nfs*6) - CD55_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.367dup r.(?) p.(Thr123AsnfsTer6) Both (homozygous) - pathogenic (recessive) g.207497984dup g.207324639dup c.367insA - CD55_000024 - PubMed: Ozen 2017 - - Germline - - - - - DNA SEQ - - CHAPLE Fam8Pat1 PubMed: Ozen 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.367dup r.(?) p.(Thr123Asnfs*6) Unknown - pathogenic g.207497984dup - CD55(NM_000574.5):c.367dupA (p.T123Nfs*6) - CD55_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479-18A>G r.(=) p.(=) Unknown - likely benign g.207498949A>G - CD55(NM_000574.3):c.479-18A>G - CD55_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572A>T r.(?) p.(Asn191Ile) Unknown - VUS g.207499060A>T - CD55(NM_001114752.2):c.572A>T (p.N191I) - CD55_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578+20A>G r.(=) p.(=) Unknown - likely benign g.207499086A>G g.207325741A>G CD55(NM_001114752.3):c.578+20A>G - CD55_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>T r.(?) p.(Gly193=) Unknown - likely benign g.207500097G>T - CD55(NM_000574.3):c.579G>T (p.G193=) - CD55_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.596C>T r.[579_622del,596c>u] p.[Tyr194Glnfs*7,Ser199Leu] Both (homozygous) - likely benign (!) g.207500114C>T g.207326769C>T 649C>T (S165L) Dr(a-) phenotype - CD55_000029 variant suggested to create cryptic branch point; smaller RNA more abundant; amino acid substitution is the basis for antigenic variation (CROM blood group), alternative splicing event for decreased expression of DAF inDr(a-) phenotype PubMed: Lublin 1991, PubMed: Reid 1991, PubMed: Lublin 1994 - rs1135402914 Germline - - - - - DNA, RNA RT-PCR, SEQ - - CROM KZ PubMed: Lublin 1991, PubMed: Reid 1991, PubMed: Lublin 1994 - F - Russia - - - - - 1 Johan den Dunnen
+/. - c.596C>T r.(?) p.(Ser199Leu) Both (homozygous) - likely benign (!) g.207500114C>T g.207326769C>T C649T (Ser165Leu) - CD55_000029 - PubMed: Daniels 1998 - - Germline - - - - - DNA SEQ - - CROM Kim PubMed: Daniels 1998 - F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - likely benign g.207500165C>T - CD55(NM_000574.5):c.647C>T (p.P216L) - CD55_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648G>A r.(?) p.(Pro216=) Unknown - likely benign g.207500166G>A g.207326821G>A CD55(NM_001114752.2):c.648G>A (p.P216=) - CD55_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>A r.(?) p.(Leu217=) Unknown - likely benign g.207500169G>A g.207326824G>A CD55(NM_001114752.2):c.651G>A (p.L217=) - CD55_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.665-3A>C r.spl? p.? Unknown - likely benign g.207504450A>C - CD55(NM_001114752.2):c.665-3A>C - CD55_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.679G>C r.(?) p.(Ala227Pro) Unknown - likely benign g.207504467G>C g.207331122G>C CD55(NM_000574.3):c.679G>C (p.A227P), CD55(NM_001114752.3):c.679G>C (p.A227P) - CD55_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.679G>C r.(?) p.(Ala227Pro) Unknown - benign g.207504467G>C - CD55(NM_000574.3):c.679G>C (p.A227P), CD55(NM_001114752.3):c.679G>C (p.A227P) - CD55_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.691A>G r.(?) p.(Ile231Val) Unknown - VUS g.207504479A>G g.207331134A>G CD55(NM_001114752.2):c.691A>G (p.I231V) - CD55_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.800G>C r.(?) p.(Cys267Ser) Both (homozygous) - pathogenic (recessive) g.207504588G>C g.207331243G>C - - CD55_000034 - PubMed: Ozen 2017 - - Germline yes - - - - DNA SEQ - - CHAPLE Fam4Pat1/2/3 PubMed: Ozen 2017 2-generation family, affected sister/2 brothers, unaffected heterozygous carrier parents F;M yes Turkey - - - - - 3 Johan den Dunnen
-?/. - c.979+8G>T r.(=) p.(=) Unknown - likely benign g.207510171G>T g.207336826G>T CD55(NM_001114752.2):c.979+8G>T - CD55_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.997G>A r.(?) p.(Val333Ile) Unknown - likely benign g.207510691G>A - CD55(NM_000574.3):c.997G>A (p.V333I) - CD55_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1077A>G r.(?) p.(Leu359=) Unknown - likely benign g.207512758A>G g.207339413A>G CD55(NM_001114752.2):c.1077A>G (p.L359=) - CD55_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081+1G>C r.spl? p.? Unknown - VUS g.207512763G>C - CD55(NM_000574.3):c.1081+1G>C - CD55_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081+1099C>T r.(=) p.(=) Unknown - likely benign g.207513861C>T - CD55(NM_001300902.1):c.1207C>T (p.P403S) - CD55_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081+1107C>T r.(=) p.(=) Unknown - likely benign g.207513869C>T g.207340524C>T CD55(NM_001300902.1):c.1215C>T (p.H405=), CD55(NM_001300902.2):c.1215C>T (p.H405=) - CD55_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081+1107C>T r.(=) p.(=) Unknown - likely benign g.207513869C>T g.207340524C>T CD55(NM_001300902.1):c.1215C>T (p.H405=), CD55(NM_001300902.2):c.1215C>T (p.H405=) - CD55_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081+1110G>A r.(=) p.(=) Unknown - likely benign g.207513872G>A - CD55(NM_001300902.1):c.1218G>A (p.P406=) - CD55_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081+1154T>A r.(=) p.(=) Unknown - likely benign g.207513916T>A - CD55(NM_001300902.1):c.1262T>A (p.L421Q) - CD55_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081+1219C>T r.(=) p.(=) Unknown - VUS g.207513981C>T - CD55(NM_001300902.1):c.1327C>T (p.R443*) - CD55_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1081+8033C>T r.(=) p.(=) Unknown - likely benign g.207520795C>T g.207347450C>T CD55(NM_001300903.1):c.1085C>T (p.T362M) - CD55_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1082-10dup r.(=) p.(=) Unknown - benign g.207532881dup g.207359536dup CD55(NM_001114752.3):c.1200-10dupT - CD55_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082-10_1082-9insTA r.(=) p.(=) Unknown - likely benign g.207532881_207532882insTA g.207359536_207359537insTA CD55(NM_001114752.2):c.1200-10_1200-9insTA - CD55_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082-10_1082-9insTTA r.(=) p.(=) Unknown - likely benign g.207532881_207532882insTTA - CD55(NM_000574.3):c.1082-10_1082-9insTTA - CD55_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082-8dup r.(=) p.(=) Unknown - likely benign g.207532883dup - CD55(NM_000574.3):c.1082-8dupA - CD55_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109T>G r.(?) p.(Leu370Trp) Unknown - likely benign g.207532918T>G g.207359573T>G CD55(NM_001114752.2):c.1227T>G (p.F409L) - CD55_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1129A>G r.(?) p.(Met377Val) Unknown - likely benign g.207532938A>G - CD55(NM_000574.3):c.1129A>G (p.M377V) - CD55_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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