Variant #0000507713 (NC_000001.10:g.45977060T>C, MMACHC(NM_015506.2):c.*2173T>C)

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.45977060T>C
DNA change (hg38) g.45511388T>C
Published as PRDX1(NM_001202431.1):c.541A>G (p.(Ser181Gly))
ISCN -
DB-ID MMACHC_000025
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 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 -?/. - c.*2173T>C r.(=) p.(=)
PRDX1 NM_181697.2 -?/. - c.541A>G r.(?) p.(Ser181Gly)