Variant #0000712861 (NC_000012.11:g.89815012C>T, POC1B(NM_172240.2):c.1355G>A)

Individual ID 00327554
Chromosome 12
Allele Maternal (confirmed)
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.89815012C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID POC1B_000007 See all 5 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) 3.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B NM_172240.2 +/. - c.1355G>A r.(?) p.(Arg452Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328769 DNA SEQ - - POC1B 2 LOVD