Variant #0000507711 (NC_000001.10:g.45974849A>G, MMACHC(NM_015506.2):c.811A>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45974849A>G
DNA change (hg38) g.45509177A>G
Published as MMACHC(NM_015506.2):c.811A>G (p.S271G)
ISCN -
DB-ID MMACHC_000023
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) 0.01126 View details
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.811A>G r.(?) p.(Ser271Gly)
PRDX1 NM_181697.2 -/. - c.*2152T>C r.(=) p.(=)