Variant #0000730035 (NC_000002.11:g.220432671del, OBSL1(NM_001173408.1):c.1303del)

Individual ID 00331534
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.220432671del
DNA change (hg38) g.219567949del
Published as NM_015311.2:c.1306delC:p.(Arg436Glyfs*14)
ISCN -
DB-ID OBSL1_000065 See all 3 reported entries
Variant remarks -
Reference PubMed: Maddirevula 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OBSL1 NM_001173408.1 +/. - c.1303del r.(?) p.(Arg436Glyfs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332753 DNA SEQ;SEQ-NG - WES OBSL1 1 LOVD