Variant #0000669859 (NC_000005.9:g.78338202T>C, DMGDH(NM_013391.3):c.1097A>G)

Individual ID 00305042
Chromosome 5
Allele Both (homozygous)
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 1 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs77116243
Origin Germline
Segregation -
Frequency 1/2790 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01104 View details
Owner Mohammed Faruq
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     
0000306171 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq