All variants in the MAB21L2 gene

Information The variants shown are described using the NM_006439.4 transcript reference sequence.

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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.840C>G r.(?) p.(Tyr280*) ACMG pathogenic g.151505021C>G g.150583869C>G - - MAB21L2_000002 ACMG PVS1, PM2, PM6 PubMed: Patel 2017 - - Germline/De novo (untested) - - - 0 - LOVD
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