Full data view for gene MBL2

Information The variants shown are described using the NM_000242.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.154C>T r.(?) p.(Arg52Cys) Unknown - likely benign g.54531242G>A g.52771482G>A MBL2(NM_000242.2):c.154C>T (p.R52C) - MBL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.154C>T r.(?) p.(Arg52Cys) Parent #1 - pathogenic g.54531242G>A g.52771482G>A - - MBL2_000003 257 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030737 Germline - 257/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 257 Mohammed Faruq
+/. - c.154C>T r.(?) p.(Arg52Cys) Both (homozygous) - pathogenic g.54531242G>A g.52771482G>A - - MBL2_000003 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030737 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.161G>A r.(?) p.(Gly54Asp) Unknown - likely benign g.54531235C>T g.52771475C>T MBL2(NM_000242.2):c.161G>A (p.G54D) - MBL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170G>A r.(?) p.(Gly57Glu) Unknown - likely benign g.54531226C>T g.52771466C>T MBL2(NM_000242.2):c.170G>A (p.G57E) - MBL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.170G>A r.(?) p.(Gly57Glu) Parent #1 - likely benign g.54531226C>T g.52771466C>T - - MBL2_000005 214 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800451 Germline - 214/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 214 Mohammed Faruq
-?/. - c.170G>A r.(?) p.(Gly57Glu) Both (homozygous) - likely benign g.54531226C>T g.52771466C>T - - MBL2_000005 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800451 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.187+5G>A r.spl? p.? Unknown - likely benign g.54531204C>T g.52771444C>T MBL2(NM_000242.2):c.187+5G>A - MBL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187+5G>A r.spl? p.? Unknown - likely benign g.54531204C>T g.52771444C>T MBL2(NM_000242.2):c.187+5G>A - MBL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - likely benign g.54530432G>A - MBL2(NM_000242.2):c.302C>T (p.P101L) - MBL2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303G>A r.(?) p.(Pro101=) Unknown - likely benign g.54530431C>T - MBL2(NM_000242.2):c.303G>A (p.P101=) - MBL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.314G>C r.(?) p.(Ser105Thr) Unknown - likely benign g.54529066C>G g.52769306C>G MBL2(NM_000242.2):c.314G>C (p.S105T) - MBL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361C>T r.(?) p.(Arg121Cys) Unknown - VUS g.54529019G>A - - - MBL2_000006 - 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.449A>C r.(?) p.(Lys150Thr) Unknown - likely benign g.54528195T>G - MBL2(NM_000242.2):c.449A>C (p.K150T) - MBL2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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