Variant #0000079433 (NC_000002.11:g.220431609C>G, OBSL1(NM_015311.2):c.2077G>C)

Individual ID 00050508
Chromosome 2
Allele Maternal (confirmed)
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.220431609C>G
DNA change (hg38) g.219566887C>G
Published as -
ISCN -
DB-ID OBSL1_000001
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Johan den Dunnen
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_015311.2 +/. - c.2077G>C r.(?) p.(Ala693Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050453 DNA SEQ;SEQ-NG-I - - OBSL1 2 Johan den Dunnen