Variant #0000693861 (NC_000001.10:g.45965703G>T, MMACHC(NM_015506.2):-)

Individual ID 00311130
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45965703G>T
DNA change (hg38) -
Published as -302G>T
ISCN -
DB-ID MMACHC_000038 See all 3 reported entries
Variant remarks -
Reference PubMed: Guéant 2018
ClinVar ID -
dbSNP ID rs3748643
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 -/. _1 - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312284 DNA SEQ - - - 3 Johan den Dunnen