All variants in the CD19 gene

Information The variants shown are described using the NM_001178098.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.-7413115_*381799del r.0? p.0? - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-1760171_*2938238dup - - - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
-?/. - c.88+6T>C r.(=) p.(=) - likely benign g.28943415T>C g.28932094T>C CD19(NM_001770.5):c.88+6T>C - CD19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.171G>A r.(?) p.(Pro57=) - likely benign g.28943749G>A g.28932428G>A CD19(NM_001178098.1):c.171G>A (p.P57=) - CD19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.305C>G r.(?) p.(Pro102Arg) - VUS g.28943883C>G - - - CD19_000017 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
?/. - c.305C>G r.(?) p.(Pro102Arg) - VUS g.28943883C>G - - - CD19_000017 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.395T>G r.(?) p.(Leu132Arg) - likely benign g.28944271T>G g.28932950T>G CD19(NM_001770.5):c.395T>G (p.L132R) - CD19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.520C>G r.(?) p.(Leu174Val) - benign g.28944396C>G g.28933075C>G CD19(NM_001178098.2):c.520C>G (p.L174V) - CD19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.527C>T r.(?) p.(Pro176Leu) - likely benign g.28944403C>T g.28933082C>T CD19(NM_001178098.1):c.527C>T (p.P176L) - CD19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.607C>T r.(?) p.(Pro203Ser) - likely benign g.28944602C>T g.28933281C>T CD19(NM_001178098.1):c.607C>T (p.P203S) - CD19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.656C>A r.(?) p.(Pro219His) - VUS g.28944651C>A - CD19(NM_001178098.1):c.656C>A (p.P219H) - CD19_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.705G>T r.(?) p.(Pro235=) - benign g.28944700G>T g.28933379G>T CD19(NM_001178098.2):c.705G>T (p.P235=) - CD19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.765C>T r.(?) p.(Asp255=) - likely benign g.28944760C>T - CD19(NM_001178098.1):c.765C>T (p.D255=) - CD19_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.953T>C r.(?) p.(Val318Ala) - likely benign g.28947480T>C g.28936159T>C CD19(NM_001178098.1):c.953T>C (p.V318A) - CD19_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.982G>A r.(?) p.(Asp328Asn) - VUS g.28947509G>A g.28936188G>A CD19(NM_001178098.1):c.982G>A (p.D328N) - CD19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.988A>G r.(?) p.(Thr330Ala) - likely benign g.28947515A>G g.28936194A>G CD19(NM_001178098.1):c.988A>G (p.T330A) - CD19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.995+9A>G r.(=) p.(=) - likely benign g.28947531A>G - CD19(NM_001770.5):c.995+9A>G - CD19_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1274C>T r.(?) p.(Ser425Phe) - likely benign g.28948667C>T g.28937346C>T CD19(NM_001178098.1):c.1274C>T (p.S425F), CD19(NM_001770.5):c.1274C>T (p.S425F) - CD19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1274C>T r.(?) p.(Ser425Phe) - VUS g.28948667C>T g.28937346C>T CD19(NM_001178098.1):c.1274C>T (p.S425F), CD19(NM_001770.5):c.1274C>T (p.S425F) - CD19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1327G>A r.(?) p.(Glu443Lys) - VUS g.28948799G>A g.28937478G>A CD19(NM_001178098.1):c.1327G>A (p.E443K) - CD19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1468C>T r.(?) p.(Arg490Trp) - VUS g.28949128C>T g.28937807C>T CD19(NM_001178098.1):c.1468C>T (p.R490W) - CD19_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1544G>A r.(?) p.(Arg515His) - benign g.28950051G>A g.28938730G>A CD19(NM_001178098.2):c.1544G>A (p.R515H) - CD19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1583-4C>A r.spl? p.? - likely benign g.28950189C>A g.28938868C>A CD19(NM_001178098.1):c.1583-4C>A, CD19(NM_001770.5):c.1580-4C>A - CD19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1583-4C>A r.spl? p.? - likely benign g.28950189C>A - CD19(NM_001178098.1):c.1583-4C>A, CD19(NM_001770.5):c.1580-4C>A - CD19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1612C>A r.(?) p.(Pro538Thr) - VUS g.28950222C>A - - - CD19_000018 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
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