Variant #0000720504 (NC_000005.9:g.78340149C>T, DMGDH(NM_013391.3):c.972G>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.78340149C>T
DNA change (hg38) -
Published as DMGDH(NM_013391.3):c.972G>A (p.W324*)
ISCN -
DB-ID DMGDH_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00144 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMGDH NM_013391.3 ?/. - c.972G>A r.(?) p.(Trp324*)