Full data view for gene CD59

Information The variants shown are described using the NM_203329.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-134-14dup r.(=) p.(=) Unknown - benign g.33755180dup - CD59(NM_203330.2):c.-179-14dupT - CD59_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18G>A r.(?) p.(Gly6=) Unknown - likely benign g.33743974C>T g.33722428C>T CD59(NM_000611.6):c.18G>A (p.G6=), CD59(NM_001127223.1):c.18G>A (p.G6=) - CD59_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18G>A r.(?) p.(Gly6=) Unknown - likely benign g.33743974C>T g.33722428C>T CD59(NM_000611.6):c.18G>A (p.G6=), CD59(NM_001127223.1):c.18G>A (p.G6=) - CD59_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.21del r.(?) p.(Val8SerfsTer72) Parent #1 - likely pathogenic g.33743971del g.33722425del c.21delT - CD59_000009 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4099 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.30C>T r.(?) p.(=) Unknown - likely benign g.33743962G>A - CD59(NM_203330.2):c.30C>T (p.F10=) - CD59_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54C>T r.(?) p.(Val18=) Unknown - likely benign g.33743938G>A g.33722392G>A CD59(NM_000611.6):c.54C>T (p.V18=) - CD59_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-11C>T r.(=) p.(=) Unknown - likely benign g.33739028G>A - CD59(NM_000611.6):c.68-11C>T - CD59_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72T>C r.(?) p.(His24=) Unknown - likely benign g.33739013A>G - CD59(NM_001127223.1):c.72T>C (p.H24=) - CD59_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150G>A r.(?) p.(Ala50=) Unknown - likely benign g.33738935C>T g.33717389C>T CD59(NM_000611.6):c.150G>A (p.A50=), CD59(NM_001127223.1):c.150G>A (p.A50=) - CD59_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150G>A r.(?) p.(Ala50=) Unknown - likely benign g.33738935C>T g.33717389C>T CD59(NM_000611.6):c.150G>A (p.A50=), CD59(NM_001127223.1):c.150G>A (p.A50=) - CD59_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Gly57=) Unknown - likely benign g.33731888C>T - CD59(NM_001127223.1):c.171G>A (p.G57=), CD59(NM_203330.2):c.171G>A (p.G57=) - CD59_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Gly57=) Unknown - likely benign g.33731888C>T - CD59(NM_001127223.1):c.171G>A (p.G57=), CD59(NM_203330.2):c.171G>A (p.G57=) - CD59_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.221_223del r.(?) p.(Asp74del) Parent #2 - VUS g.33731839_33731841del g.33710293_33710295del c.221_223delACG - CD59_000008 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4099 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.313A>C r.(?) p.(Thr105Pro) Unknown - likely benign g.33731746T>G g.33710200T>G CD59(NM_001127223.1):c.313A>C (p.T105P) - CD59_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323C>A r.(?) p.(Ser108*) Both (homozygous) ACMG likely pathogenic g.33731736G>T g.33710190G>T - - CD59_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HACD59 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
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