Variant #0000651769 (NC_000005.9:g.78301172C>T, DMGDH(NM_013391.3):c.2309G>A)

Individual ID 00293912
Chromosome 5
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.78301172C>T
DNA change (hg38) g.79005349C>T
Published as -
ISCN -
DB-ID DMGDH_000006
Variant remarks 6 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs41272262
Origin Germline
Segregation -
Frequency 6/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00184 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     
DMGDH NM_013391.3 -?/. - c.2309G>A r.(?) p.(Arg770Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295080 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq