Full data view for gene CD320

Information The variants shown are described using the NM_016579.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

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     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Consanguinity     

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Age at death     

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Data_av     

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Panel size     

Owner     
+/. - c.142+5G>A r.spl? p.? Maternal (confirmed) - pathogenic g.8373028C>T g.8308144C>T - - CD320_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - - - - - - 1 Belen Perez
+?/. - c.142+5G>A r.spl p.? Parent #2 - likely pathogenic g.8373028C>T g.8308144C>T - - CD320_000006 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat30 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.262_264del r.(?) p.(Glu88del) Paternal (confirmed) - VUS g.8369925_8369927del g.8305041_8305043del 262_264delGAG - CD320_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - - - - - - 1 Belen Perez
+/? ? c.262_264del r.(?) p.(Glu88del) Both (homozygous) - pathogenic g.8369925_8369927del g.8305041_8305043del p.E88del - CD320_000001 - PubMed: Quadros 2010 - - Unknown - - - - - DNA SEQ - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - European - - - - 1 LOVD
-/. - c.262_264del r.(?) p.(Glu88del) Unknown - benign g.8369925_8369927del - CD320(NM_016579.3):c.262_264delGAG (p.(Glu88del)), CD320(NM_016579.3):c.262_264delGAG (p.E88del), CD320(NM_016579.4):c.262_264delGAG (p.E88del) - CD320_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.262_264del r.(?) p.(Glu88del) Unknown - likely benign g.8369919_8369921del g.8305035_8305037del - - CD320_000001 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
?/. - c.262_264del r.(?) p.(Glu88del) Unknown - VUS g.8369925_8369927del - CD320(NM_016579.3):c.262_264delGAG (p.(Glu88del)), CD320(NM_016579.3):c.262_264delGAG (p.E88del), CD320(NM_016579.4):c.262_264delGAG (p.E88del) - CD320_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262_264del r.(?) p.(Glu88del) Unknown - VUS g.8369925_8369927del - CD320(NM_016579.3):c.262_264delGAG (p.(Glu88del)), CD320(NM_016579.3):c.262_264delGAG (p.E88del), CD320(NM_016579.4):c.262_264delGAG (p.E88del) - CD320_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.262_264del r.(?) p.(Glu88del) Parent #1 - likely pathogenic g.8369925_8369927del g.8305041_8305043del 262_264delGAG - CD320_000001 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat30 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.386G>T r.(?) p.(Arg129Leu) Unknown - VUS g.8368855C>A - CD320(NM_016579.4):c.386G>T (p.R129L) - CD320_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? ? c.447G>T r.(?) p.(=) Both (homozygous) - likely benign g.8368794C>A g.8303910C>A c.512A>T, silent polymorphysm - CD320_000002 - PubMed: Quadros 2010 - - Unknown - - - - - DNA SEQ - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - European - - - - 1 LOVD
-?/? ? c.483C>T r.(?) p.(=) Both (homozygous) - likely benign g.8368758G>A g.8303874G>A c.548C>T, silent polymorphysm - CD320_000003 - PubMed: Quadros 2010 - - Unknown - - - - - DNA SEQ - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - European - - - - 1 LOVD
-?/? ? c.489C>G r.(?) p.(Asp163Glu) Both (homozygous) - likely benign g.8368752G>C g.8303868G>C p.S142G - CD320_000004 - PubMed: Quadros 2010 - - Unknown - - - - - DNA SEQ - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - European - - - - 1 LOVD
-?/? ? c.658G>A r.(?) p.(Gly220Arg) Both (homozygous) - likely benign g.8367709C>T g.8302825C>T c.723C>A, G220R - CD320_000005 - PubMed: Quadros 2010 - - Unknown - - - - - DNA SEQ - - aciduria, methylmalonic, due to transcobalamin receptor defect - - - - - - European - - - - 1 LOVD
-/. - c.658G>A r.(?) p.(Gly220Arg) Parent #1 - benign g.8367709C>T g.8302825C>T - - CD320_000005 208 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2336573 Germline - 208/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 208 Mohammed Faruq
-/. - c.658G>A r.(?) p.(Gly220Arg) Both (homozygous) - benign g.8367709C>T g.8302825C>T - - CD320_000005 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2336573 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
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