Full data view for gene MMACHC

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) Unknown - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) Unknown - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.271dup r.271dup p.Arg91Lysfs*14 Maternal (confirmed) - pathogenic (recessive) g.45973217dup g.45507545dup 270_271insA - MMACHC_000001 - PubMed: Guéant 2018 - - Germline - - - 0 - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m 0 - - 1 Johan den Dunnen
+?/. - c.271dup r.(?) p.(Arg91LysfsTer14) Both (homozygous) - likely pathogenic g.45973217dup g.45507545dup - - MMACHC_000001 - PubMed: Nair 2018 - rs398124292 Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - WES ? - PubMed: Nair 2018 patient - - Lebanon - - 0 - - 1 Johan den Dunnen
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