Variant #0000824799 (NC_000012.11:g.89885809G>A, POC1B(NM_172240.2):c.356C>T)

Individual ID 00392656
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.89885809G>A
DNA change (hg38) g.89492032G>A
Published as POC1B c.C356T, p.T119I
ISCN -
DB-ID POC1B_000022 See all 7 reported entries
Variant remarks marked as causative, heterozygous
Reference PubMed: Ma 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
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 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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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     
0000393903 DNA SEQ-NG-I;SEQ - whole exome sequencing POC1B 2 LOVD