All variants in the CD320 gene

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     

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     
+/. - c.142+5G>A r.spl? p.? - pathogenic g.8373028C>T g.8308144C>T - - CD320_000006 - - - - Germline - - - - - Belen Perez
+?/. - c.142+5G>A r.spl p.? - likely pathogenic g.8373028C>T g.8308144C>T - - CD320_000006 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.262_264del r.(?) p.(Glu88del) - VUS g.8369925_8369927del g.8305041_8305043del 262_264delGAG - CD320_000001 - - - - Germline - - - - - Belen Perez
+/? ? c.262_264del r.(?) p.(Glu88del) - pathogenic g.8369925_8369927del g.8305041_8305043del p.E88del - CD320_000001 - PubMed: Quadros 2010 - - Unknown - - - - - LOVD
-/. - c.262_264del r.(?) p.(Glu88del) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.262_264del r.(?) p.(Glu88del) - 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 - - - Global Variome, with Curator vacancy
?/. - c.262_264del r.(?) p.(Glu88del) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.262_264del r.(?) p.(Glu88del) - 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 - - - - - VKGL-NL_Leiden
+?/. - c.262_264del r.(?) p.(Glu88del) - likely pathogenic g.8369925_8369927del g.8305041_8305043del 262_264delGAG - CD320_000001 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.386G>T r.(?) p.(Arg129Leu) - VUS g.8368855C>A - CD320(NM_016579.4):c.386G>T (p.R129L) - CD320_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/? ? c.447G>T r.(?) p.(=) - likely benign g.8368794C>A g.8303910C>A c.512A>T, silent polymorphysm - CD320_000002 - PubMed: Quadros 2010 - - Unknown - - - - - LOVD
-?/? ? c.483C>T r.(?) p.(=) - likely benign g.8368758G>A g.8303874G>A c.548C>T, silent polymorphysm - CD320_000003 - PubMed: Quadros 2010 - - Unknown - - - - - LOVD
-?/? ? c.489C>G r.(?) p.(Asp163Glu) - likely benign g.8368752G>C g.8303868G>C p.S142G - CD320_000004 - PubMed: Quadros 2010 - - Unknown - - - - - LOVD
-?/? ? c.658G>A r.(?) p.(Gly220Arg) - likely benign g.8367709C>T g.8302825C>T c.723C>A, G220R - CD320_000005 - PubMed: Quadros 2010 - - Unknown - - - - - LOVD
-/. - c.658G>A r.(?) p.(Gly220Arg) - benign g.8367709C>T g.8302825C>T - - CD320_000005 208 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2336573 Germline - 208/2795 individuals - - - Mohammed Faruq
-/. - c.658G>A r.(?) p.(Gly220Arg) - benign g.8367709C>T g.8302825C>T - - CD320_000005 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2336573 Germline - 7/2795 individuals - - - Mohammed Faruq
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