Variant #0000712855 (NC_000012.11:g.89885809G>A, POC1B(NM_172240.2):c.356C>T)

Individual ID 00327553
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.89885809G>A
DNA change (hg38) g.89492032G>A
Published as -
ISCN -
DB-ID POC1B_000022 See all 7 reported entries
Variant remarks -
Reference PubMed: Kameya 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B NM_172240.2 +/. - c.356C>T r.(?) p.(Thr119Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328768 DNA SEQ - - POC1B 1 LOVD