Variant #0000693866 (NC_000001.10:g.45977088T>A, MMACHC(NM_015506.2):-)

Individual ID 00311129
Chromosome 1
Allele Paternal (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.45977088T>A
DNA change (hg38) g.45511416T>A
Published as -
ISCN -
DB-ID PRDX1_000002
Variant remarks variant silences 2 flanking transcripts
Reference PubMed: Guéant 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 +/. - - r.0 p.0
PRDX1 NM_181697.2 +/. 5i c.515-2A>T r.515_delins[NC_000001.10:g.45965566_(45966025_?)] p.?
CCDC163P NR_033297.1 +/. - - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312283 DNA SEQ - - - 3 Johan den Dunnen