Full data view for gene CD79A

Information The variants shown are described using the NM_001783.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     

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VIP     

Data_av     

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Panel size     

Owner     
-?/. - c.28G>A r.(?) p.(Ala10Thr) Unknown - likely benign g.42381402G>A g.41877332G>A CD79A(NM_001783.3):c.28G>A (p.A10T) - CD79A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80-17A>C r.(=) p.(=) Unknown - likely benign g.42383043A>C g.41878973A>C CD79A(NM_001783.3):c.80-17A>C - CD79A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.197G>A r.(?) p.(Trp66*) Both (homozygous) - likely pathogenic g.42383177G>A g.41879107G>A g.1988G>A - CD79A_000001 - - - - Germline yes - - - - DNA SEQ blood - AGM2 - - - F yes (Algeria) - - - - intravenous immunoglobulins 1 Meriem Benali
?/. - c.224C>T r.(?) p.(Thr75Met) Unknown - VUS g.42383204C>T - - - CD79A_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.233_234del r.(?) p.(Pro78Argfs*103) Unknown - pathogenic g.42383213_42383214del - CD79A(NM_001783.3):c.233_234delCT (p.P78Rfs*103) - ARHGEF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.269C>T r.(?) p.(Thr90Met) Unknown - likely benign g.42383249C>T g.41879179C>T CD79A(NM_001783.3):c.269C>T (p.T90M) - ARHGEF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Cys119=) Unknown - likely benign g.42383337C>T g.41879267C>T CD79A(NM_001783.3):c.357C>T (p.C119=) - ARHGEF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(Arg124Cys) Unknown - VUS g.42383350C>T - CD79A(NM_001783.3):c.370C>T (p.R124C), CD79A(NM_001783.4):c.370C>T (p.R124C) - ARHGEF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(Arg124Cys) Unknown - VUS g.42383350C>T - CD79A(NM_001783.3):c.370C>T (p.R124C), CD79A(NM_001783.4):c.370C>T (p.R124C) - ARHGEF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371G>A r.(?) p.(Arg124His) Unknown - VUS g.42383351G>A g.41879281G>A CD79A(NM_001783.4):c.371G>A (p.R124H) - CD79A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395C>T r.(?) p.(Pro132Leu) Unknown - VUS g.42383620C>T g.41879550C>T CD79A(NM_001783.3):c.395C>T (p.P132L) - ARHGEF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419C>A r.(?) p.(Thr140Asn) Unknown - VUS g.42383644C>A g.41879574C>A CD79A(NM_001783.3):c.419C>A (p.T140N), CD79A(NM_001783.4):c.419C>A (p.T140N) - CD79A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419C>A r.(?) p.(Thr140Asn) Unknown - VUS g.42383644C>A g.41879574C>A CD79A(NM_001783.3):c.419C>A (p.T140N), CD79A(NM_001783.4):c.419C>A (p.T140N) - CD79A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452T>C r.(?) p.(Ile151Thr) Unknown - VUS g.42383677T>C - CD79A(NM_001783.3):c.452T>C (p.I151T) - ARHGEF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.499-14A>C r.(=) p.(=) Unknown - benign g.42384723A>C g.41880656A>C CD79A(NM_001783.3):c.499-14A>C - ARHGEF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.643A>G r.(?) p.(Ser215Gly) Unknown - likely benign g.42385009A>G g.41880942A>G CD79A(NM_001783.3):c.643A>G (p.S215G) - CD79A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3489T>A r.(=) p.(=) Unknown - likely benign g.42388536T>A - ARHGEF1(NM_199002.1):c.2T>A (p.M1?) - ARHGEF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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