All variants in the MMACHC gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.181C>T r.(?) p.(Arg61Trp) - likely benign g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.181C>T r.(?) p.(Arg61Trp) - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.181C>T r.(?) p.(Arg61Trp) - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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