Full data view for gene AICDA

Information The variants shown are described using the NM_020661.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.48A>G r.(?) p.(=) Unknown - likely benign g.8759569T>C - AICDA(NM_020661.2):c.48A>G (p.K16=) - AICDA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.71G>A r.(?) p.(Arg24Gln) Both (homozygous) ACMG likely pathogenic g.8759546C>T g.8606950C>T - - AICDA_000015 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat5,1 PubMed: Stray-Pedersen 2017 - F - Turkey - - - - - 1 Johan den Dunnen
+?/. 2 c.91T>C r.(?) p.(Tyr31His) Both (homozygous) - likely pathogenic g.8759526A>G g.8606930A>G g.5834T>C - AICDA_000002 - - - - Germline - - - - - DNA PCR, SEQ - - HIGM2 - - - M no Tunisia - - - - - 1 Hanen Ouadani
+?/. - c.98T>A r.(?) p.(Val33Glu) Unknown - likely pathogenic g.8759519A>T - - - AICDA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.114T>G r.(?) p.(Ser38Arg) Unknown - VUS g.8759503A>C g.8606907A>C AICDA(NM_020661.2):c.114T>G (p.S38R) - AICDA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.156+1G>T r.[156_157ins[u;156+2_156+43],156_157ins[u;156+2_156+72]] p.[Asn53Leufs*15,Asn53Leufs*19] Both (homozygous) - pathogenic g.8759460C>A g.8606864C>A 5904G>T - AICDA_000001 - - - - Germline - - - - - DNA PCR, SEQ - - HIGM2 - - - - - Tunisia - - - - - 5 Hanen Ouadani
-/. - c.156+16G>A r.(=) p.(=) Unknown - benign g.8759445C>T g.8606849C>T AICDA(NM_020661.2):c.156+16G>A, AICDA(NM_020661.4):c.156+16G>A - AICDA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156+16G>A r.(=) p.(=) Unknown - benign g.8759445C>T g.8606849C>T AICDA(NM_020661.2):c.156+16G>A, AICDA(NM_020661.4):c.156+16G>A - AICDA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296G>A r.(?) p.(Arg99Gln) Unknown - VUS g.8757942C>T - AICDA(NM_020661.2):c.296G>A (p.R99Q) - AICDA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.389A>C r.(?) p.(His130Pro) Both (homozygous) - likely pathogenic g.8757849T>G g.8605253T>G g.7515A>C - AICDA_000003 - - - - Germline - - - - - DNA PCR, SEQ - - HIGM2 - - - - no Tunisia - - - - - 5 Hanen Ouadani
?/. - c.400G>A r.(?) p.(Val134Met) Unknown - VUS g.8757838C>T g.8605242C>T AICDA(NM_020661.2):c.400G>A (p.V134M) - AICDA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA PCRdig, SEQ PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - F no Finland - - - - - 1 Luca Trotta
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA SEQ-NG-I PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - M no Finland - - - - - 1 Luca Trotta
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA SEQ-NG-I PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - F no Finland - - - - - 1 Luca Trotta
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA PCRdig, SEQ PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - F no Finland - - - - - 1 Luca Trotta
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA PCRdig, SEQ PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - M no Finland - - - - - 1 Luca Trotta
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA PCRdig, SEQ PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - F no Finland - - - - - 1 Luca Trotta
+?/. 3 c.416T>C r.(?) p.(Met139Thr) Both (homozygous) - likely pathogenic g.8757822A>G g.8605226A>G - - AICDA_000004 on founder haplotype Trotta 2016, submitted to EJHG (845-15-EJHGR) - rs200858797 Germline yes - BspHI- - - DNA PCRdig, SEQ PBMC - HIGM2 - Trotta 2016, submitted to EJHG (845-15-EJHGR) - M no Finland - - - - - 1 Luca Trotta
-/. - c.428-5dup r.spl? p.? Unknown - benign g.8757535dup - AICDA(NM_020661.2):c.428-5dupT, AICDA(NM_020661.4):c.428-5dupT - AICDA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.428-5dup r.spl? p.? Unknown - benign g.8757535dup - AICDA(NM_020661.2):c.428-5dupT, AICDA(NM_020661.4):c.428-5dupT - AICDA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.465C>T r.(?) p.(His155=) Unknown - benign g.8757481G>A g.8604885G>A AICDA(NM_020661.2):c.465C>T (p.H155=), AICDA(NM_020661.4):c.465C>T (p.H155=) - AICDA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.465C>T r.(?) p.(His155=) Unknown - benign g.8757481G>A g.8604885G>A AICDA(NM_020661.2):c.465C>T (p.H155=), AICDA(NM_020661.4):c.465C>T (p.H155=) - AICDA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504T>C r.(?) p.(Asn168=) Unknown - likely benign g.8757442A>G g.8604846A>G AICDA(NM_020661.2):c.504T>C (p.N168=) - AICDA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.517T>G r.(?) p.(Ser173Ala) Unknown - likely benign g.8757429A>C - AICDA(NM_020661.2):c.517T>G (p.S173A) - AICDA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1028C>T r.(=) p.(=) Parent #1 - benign g.8755852G>A g.8603256G>A - - AICDA_000012 170 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7304723 Germline - 170/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 170 Mohammed Faruq
-/. - c.*1028C>T r.(=) p.(=) Both (homozygous) - benign g.8755852G>A g.8603256G>A - - AICDA_000012 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7304723 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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