Variant #0000411451 (NC_000002.11:g.242680480_242680481dup, D2HGDH(NM_152783.3):c.325_326dup)

Individual ID 00184839
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
Date created 2016-01-05 10:44:38 +01:00 (CET)
Date last edited 2019-02-27 22:28:00 +01:00 (CET)
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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     
0000185806 DNA SEQ - - D2HGDH 1 Gajja Salomons