Variant #0000688195 (NC_000001.10:g.45973996A>G, MMACHC(NM_015506.2):c.389A>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45973996A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MMACHC_000039
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) 0.00011 View details
Owner VKGL-NL_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 +?/. - c.389A>G r.(?) p.(Tyr130Cys)
PRDX1 NM_181697.2 +?/. - c.*3005T>C r.(=) p.(=)