Variant #0000651770 (NC_000005.9:g.78338202T>C, DMGDH(NM_013391.3):c.1097A>G)

Individual ID 00293913
Chromosome 5
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.78338202T>C
DNA change (hg38) g.79042379T>C
Published as -
ISCN -
DB-ID DMGDH_000007 See all 2 reported entries
Variant remarks 48 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs77116243
Origin Germline
Segregation -
Frequency 48/2790 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01104 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.1097A>G r.(?) p.(Asn366Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295081 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq