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.
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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.472T>C r.(?) p.(Phe158Leu) - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.472T>C r.(?) p.(Phe158Leu) - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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