Variant #0000647724 (NC_000001.10:g.45974001C>T, MMACHC(NM_015506.2):c.394C>T)

Individual ID 00289867
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
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 3 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs121918241
Origin Germline
Segregation -
Frequency 3/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Mohammed Faruq
Database submission license No license selected
Created by Johan den Dunnen
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     
0000291035 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq