Full data view for gene MARCH6

Information The variants shown are described using the NM_005885.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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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     
+/. - c.? pathogenic r.? p.? Parent #1 g.? - - - MARCH6_000000 - in press - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES FAME;FMCTE FamFMTCE3 PubMed: van Rootselaar 2017 4-generation family, 18 affected F;M no Netherlands - - 0 - - 18 Johan den Dunnen
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