Variant #0000507701 (NC_000001.10:g.45973228del, MMACHC(NM_015506.2):c.276+6del)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45973228del
DNA change (hg38) g.45507556del
Published as MMACHC(NM_015506.2):c.276+6delG
ISCN -
DB-ID MMACHC_000018
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 -?/. - c.276+6del r.(=) p.(=)
PRDX1 NM_181697.2 -?/. - c.*3774del r.(?) p.(=)