All variants in the MMACHC gene

Information The variants shown are described using the NM_015506.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.126G>A r.(?) p.(Pro42=) - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_015506.2):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.126G>A r.(?) p.(Pro42=) - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_015506.2):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query