Variant #0000507697 (NC_000001.10:g.45973124G>C, MMACHC(NM_015506.2):c.178G>C)

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.45973124G>C
DNA change (hg38) g.45507452G>C
Published as MMACHC(NM_015506.2):c.178G>C (p.D60H)
ISCN -
DB-ID MMACHC_000017
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) 0.00644 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 -/. - c.178G>C r.(?) p.(Asp60His)
PRDX1 NM_181697.2 -/. - c.*3877C>G r.(=) p.(=)