Variant #0000693858 (NC_000001.10:g.45973217dup, MMACHC(NM_015506.2):c.271dup)

Individual ID 00311128
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.45973217dup
DNA change (hg38) g.45507545dup
Published as 270_271insA
ISCN -
DB-ID MMACHC_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Guéant 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 +/. - c.271dup r.271dup p.Arg91Lysfs*14



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312282 DNA SEQ - - - 3 Johan den Dunnen