Variant #0000787992 (NC_000002.11:g.220435250del, OBSL1(NM_001173408.1):c.706del)

Individual ID 00375202
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.220435250del
DNA change (hg38) g.219570528del
Published as 706delG
ISCN -
DB-ID OBSL1_000068
Variant remarks -
Reference -
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 Xiuli Zhao
Database submission license No license selected
Created by Xiuli Zhao
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OBSL1 NM_001173408.1 +/. - c.706del r.(?) p.(Asp236Thrfs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376396 DNA SEQ-NG Peripheral blood - OBSL1 1 Xiuli Zhao