All variants in the MTR gene

Information The variants shown are described using the NM_000254.2 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.638_639del r.(?) p.(Phe213*) - likely pathogenic g.236978932_236978933del g.236815632_236815633del 635_636delTT - MTR_000073 - PubMed: Stone 2017 - - De novo - - - 0 - LOVD
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