All variants in the MMACHC gene

Information The variants shown are described using the NM_015506.2 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.217C>T r.(?) p.(Arg73*) - pathogenic (recessive) g.45973163C>T - - - MMACHC_000031 - - - - Germline - - - 0 - Sha Hong
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