All variants in the MMACHC gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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.271dup r.(?) p.(Arg91Lysfs*14) - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.271dup r.271dup p.Arg91Lysfs*14 - pathogenic (recessive) g.45973217dup g.45507545dup 270_271insA - MMACHC_000001 - PubMed: Guéant 2018 - - Germline - - - 0 - Johan den Dunnen
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