Variant #0000720503 (NC_000005.9:g.78328556C>G, DMGDH(NM_013391.3):c.1471G>C)

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.78328556C>G
DNA change (hg38) -
Published as DMGDH(NM_013391.3):c.1471G>C (p.E491Q)
ISCN -
DB-ID DMGDH_000009
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMGDH NM_013391.3 ?/. - c.1471G>C r.(?) p.(Glu491Gln)