Variant #0000320801 (NC_000001.10:g.45973217dup, MMACHC(NM_015506.2):c.271dup)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45973217dup
DNA change (hg38) g.45507545dup
Published as MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14)
ISCN -
DB-ID MMACHC_000006 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 +/. - c.271dup r.(?) p.(Arg91LysfsTer14)
PRDX1 NM_181697.2 +/. - c.*3784dup r.(?) p.(=)