Full data view for gene MOGAT3

Information The variants shown are described using the NM_178176.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 7 c.962A>T - r.(?) p.(Gln321Leu) Both (homozygous) g.100839291T>A - - - MOGAT3_000001 not associated with phenotype PubMed: Caburet 2014, Journal: Caburet 2014 - - Germline no - - 0 - DNA SEQ, SEQ-NG - - POF-8 - PubMed: Caburet 2014, Journal: Caburet 2014, PubMed: Caburet 2012 5-generation family, 5 affecteds (5F), unaffected heterozygous carriers - yes Israel Palestinian - 0 - - 5 Johan den Dunnen
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