Genomic variant #0000411469

Individual ID 00184855
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.242680425A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID D2HGDH_015015
Variant remarks -
Reference PubMed: Struys 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gajja Salomons




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
D2HGDH NM_152783.3 +/. 2i c.293-23A>G pathogenic r.spl ?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185822 DNA SEQ - - D2HGDH 2 Gajja Salomons