Variant #0000411446 (NC_000002.11:g.242680480_242680481dup, D2HGDH(NM_152783.3):c.325_326dup)

Individual ID 00184836
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.242680480_242680481dup
DNA change (hg38) g.241741065_241741066dup
Published as 326_327dupTC
ISCN -
DB-ID D2HGDH_015005 See all 3 reported entries
Variant remarks -
Reference PubMed: Misra 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
D2HGDH NM_152783.3 +/. 3 c.325_326dup r.(?) p.(Glu110Argfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185803 DNA SEQ - - D2HGDH 2 Gajja Salomons