Full data view for gene MAB21L3

Information The variants shown are described using the NM_152367.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.440G>A r.(?) p.(Arg147Gln) Unknown - VUS g.116666937G>A - MAB21L3(NM_152367.2):c.440G>A (p.R147Q) - MAB21L3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481+1G>T r.spl? p.? Unknown - VUS g.116666979G>T g.116124358G>T MAB21L3(NM_152367.2):c.481+1G>T (p.?) - MAB21L3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739G>T r.(?) p.(Glu247Ter) Unknown - VUS g.116670844G>T g.116128223G>T MAB21L3(NM_152367.2):c.739G>T (p.E247*) - MAB21L3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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