All variants in the MMACHC gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
-/. _1 - r.(=) p.(=) - benign g.45965703G>T - -302G>T - MMACHC_000038 - PubMed: Guéant 2018 - rs3748643 Germline - - - 0 - Johan den Dunnen
-/. _1 - r.0 p.0 - benign g.45965703G>T g.45500031G>T -302G>T - MMACHC_000038 - - - rs3748643 Germline - - - 0 - Johan den Dunnen
-/. _1 - r.(=) p.(=) - benign g.45965703G>T g.45500031G>T -302G>T - MMACHC_000038 - PubMed: Guéant 2018 - rs3748643 Germline - - - 0 - Johan den Dunnen
+/. - - r.0 p.0 - pathogenic (recessive) g.45977087C>A g.45511415C>A - - PRDX1_000001 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - - r.0 p.0 - pathogenic (recessive) g.45977087C>A g.45511415C>A - - PRDX1_000001 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - - r.0 p.0 - pathogenic (recessive) g.45977088T>A g.45511416T>A - - PRDX1_000002 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline yes - - 0 - Johan den Dunnen
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