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.658_660del r.(?) p.(Lys220del) - pathogenic g.45974696_45974698del g.45509024_45509026del 658_660delAAG - MMACHC_000033 no variant 2nd allele reported - - - Germline - - - 0 - Sha Hong
+/. - c.658_660del r.(?) p.(Lys220del) - pathogenic g.45974696_45974698del - - - MMACHC_000033 - - - - Germline - - - 0 - Sha Hong
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