Variant #0000673585 (NC_000001.10:g.45974696_45974698del, MMACHC(NM_015506.2):c.658_660del)

Individual ID 00305908
Chromosome 1
Allele Parent #2
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.45974696_45974698del
DNA change (hg38) g.45509024_45509026del
Published as 658_660delAAG
ISCN -
DB-ID MMACHC_000033 See all 2 reported entries
Variant remarks no variant 2nd allele reported
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.658_660del r.(?) p.(Lys220del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307046 DNA SEQ-NG - - MMACHC 1 Sha Hong