Variant #0000719653 (NC_000003.11:g.9792107G>A, NM_016828.2:c.137G>A (OGG1))

Chromosome 3
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.9792107G>A
DNA change (hg38) -
Published as OGG1(NM_016828.2):c.137G>A (p.R46Q), OGG1(NM_016828.3):c.137G>A (p.R46Q)
ISCN -
DB-ID OGG1_000016 See all 12 reported entries
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) 0.00222 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRPF1 NM_001003694.1 ?/. - c.*3074G>A r.(=) p.(=)
CAMK1 NM_003656.4 ?/. - c.*7116C>T r.(=) p.(=)
OGG1 NM_016820.3 ?/. - c.137G>A r.(?) p.(Arg46Gln)
OGG1 NM_016828.2 ?/. - c.137G>A r.(?) p.(Arg46Gln)


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