Variant #0000279848 (NC_000001.10:g.45974808C>T, MMACHC(NM_015506.2):c.770C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.45974808C>T
DNA change (hg38) g.45509136C>T
Published as MMACHC(NM_015506.2):c.770C>T (p.P257L)
ISCN -
DB-ID MMACHC_000013
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 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.770C>T r.(?) p.(Pro257Leu)
PRDX1 NM_181697.2 ?/. - c.*2193G>A r.(=) p.(=)