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.440G>C r.(?) p.(Gly147Ala) - pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.440G>C r.(?) p.(Gly147Ala) - likely pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.440G>C r.(?) p.(Gly147Ala) - likely pathogenic g.45974478G>C - MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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