Variant #0000248902 (NC_000005.9:g.78340286A>G, DMGDH(NM_013391.3):c.835T>C)

Chromosome 5
Allele Unknown
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.78340286A>G
DNA change (hg38) g.79044463A>G
Published as DMGDH(NM_013391.3):c.835T>C (p.S279P)
ISCN -
DB-ID DMGDH_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.55894 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMGDH NM_013391.3 -/. - c.835T>C r.(?) p.(Ser279Pro)