Variant #0000673576 (NC_000001.10:g.45974001C>T, MMACHC(NM_015506.2):c.394C>T)

Individual ID 00305906
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.45974001C>T
DNA change (hg38) g.45508329C>T
Published as -
ISCN -
DB-ID MMACHC_000028 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Sha Hong
Database submission license No license selected
Created by Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 +/. - c.394C>T r.(?) p.(Arg132*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307037 DNA SEQ-NG - - MMACHC 2 Sha Hong