Variant #0000794690 (NC_000012.11:g.89815031_89815032del, POC1B(NM_172240.2):c.1336_1337del)

Individual ID 00380090
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.89815031_89815032del
DNA change (hg38) g.89421254_89421255del
Published as -
ISCN -
DB-ID POC1B_000026
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jinu Han
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jinu Han
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B NM_172240.2 +?/. - c.1336_1337del r.(?) p.(Val446Phefs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381293 DNA SEQ-NG-I - - - 2 Jinu Han