Variant #0000712792 (NC_000012.11:g.89885848C>G, POC1B(NM_172240.2):c.317G>C)

Individual ID 00327547
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.89885848C>G
DNA change (hg38) g.89492071C>G
Published as -
ISCN -
DB-ID POC1B_000001 See all 10 reported entries
Variant remarks -
Reference PubMed: Beck 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
POC1B NM_172240.2 +?/. - c.317G>C r.(?) p.(Arg106Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328762 DNA SEQ-NG - WES - 58 Johan den Dunnen