Variant #0000507712 (NC_000001.10:g.45974886_45974889del, MMACHC(NM_015506.2):c.848_*2del)

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.45974886_45974889del
DNA change (hg38) g.45509214_45509217del
Published as MMACHC(NM_015506.2):c.846_849delTTGA (p.*283Ffs*7)
ISCN -
DB-ID MMACHC_000024
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_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 ?/. - c.848_*2del r.(?) p.(Ter283PheextTer6)
PRDX1 NM_181697.2 ?/. - c.*2114_*2117del r.(=) p.(=)