Variant #0000514842 (NC_000002.11:g.220423149G>A, OBSL1(NM_001173408.1):c.*3457C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.220423149G>A
DNA change (hg38) g.219558427G>A
Published as OBSL1(NM_001173431.1):c.3259C>T (p.(Arg1087Cys))
ISCN -
DB-ID OBSL1_000038
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) 0.00019 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OBSL1 NM_001173408.1 -?/. - c.*3457C>T r.(=) p.(=)