Variant #0000507705 (NC_000001.10:g.45974012G>A, MMACHC(NM_015506.2):c.405G>A)

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.45974012G>A
DNA change (hg38) g.45508340G>A
Published as MMACHC(NM_001330540.1):c.234G>A (p.V78=)
ISCN -
DB-ID MMACHC_000020
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 -?/. - c.405G>A r.(?) p.(Val135=)
PRDX1 NM_181697.2 -?/. - c.*2989C>T r.(=) p.(=)