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.848G>C r.(?) p.(*283Serext*14) ACMG VUS g.45974886G>C g.45509214G>C - - MMACHC_000030 no second variant detected in MMACHC - - rs201025783 Germline - - - 0 - Andreas Laner
?/. - c.848G>C r.(?) p.(*283Serext*14) - VUS g.45974886G>C - MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14) - MMACHC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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