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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by 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