Variant #0000659567 (NC_000001.10:g.45974886G>C, MMACHC(NM_015506.2):c.848G>C)

Individual ID 00295743
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.45974886G>C
DNA change (hg38) g.45509214G>C
Published as -
ISCN -
DB-ID MMACHC_000030 See all 2 reported entries
Variant remarks no second variant detected in MMACHC
Reference -
ClinVar ID -
dbSNP ID rs201025783
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00027 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 ?/. - c.848G>C r.(?) p.(*283Serext*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296916 DNA SEQ-NG-S - - - 1 Andreas Laner