Variant #0000975019 (NC_000002.11:g.220428260G>A, NM_015311.2:c.2497C>T (OBSL1))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.220428260G>A
DNA change (hg38) -
Published as OBSL1(NM_015311.2):c.2497C>T (p.(Arg833*))
ISCN -
DB-ID OBSL1_000080
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:20:39 +02:00 (CEST)
Date last edited 2024-08-28 13:07:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OBSL1 NM_015311.2 +?/. - c.2497C>T r.(?) p.(Arg833*)


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