Variant #0000710903 (NC_000012.11:g.89885848C>G, POC1B(NM_172240.2):c.317G>C)

Individual ID 00326005
Chromosome 12
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.89885848C>G
DNA change (hg38) g.89492071C>G
Published as -
ISCN -
DB-ID POC1B_000001 See all 10 reported entries
Variant remarks -
Reference PubMed: Roosing 2014, Journal: Roosing 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 Jens Doets
Database submission license No license selected
Created by Jens Doets
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     
0000327215 DNA SEQ blood WES POC1B 1 Jens Doets