Variant #0000839746 (NC_000010.10:g.50952770del, NM_018245.2:c.1658del (OGDHL))

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.50952770del
DNA change (hg38) g.49744724del
Published as -
ISCN -
DB-ID OGDHL_000003 See all 2 reported entries
Variant remarks Variant functionally tested and re-classified
Reference Journal: Lin 2023
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Barbara Vona
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Barbara Vona
Date created 2022-02-13 18:10:08 +01:00 (CET)
Date last edited 2023-11-20 06:55:41 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OGDHL NM_018245.2 +/. - c.1658del r.(?) p.(Cys553Leufs*16)


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