Variant #0000718532 (NC_000002.11:g.220422198_220422202del, OBSL1(NM_001173408.1):c.*4406_*4410del)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.220422198_220422202del
DNA change (hg38) -
Published as OBSL1(NM_015311.2):c.3931_3935delAGCCA (p.S1311Gfs*64)
ISCN -
DB-ID OBSL1_000062
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OBSL1 NM_001173408.1 +/. - c.*4406_*4410del r.(=) p.(=)