Variant #0000820424 (NC_000012.11:g.89865943A>C, POC1B(NM_172240.2):c.560+2T>G)

Individual ID 00389836
Chromosome 12
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.89865943A>C
DNA change (hg38) g.89472166A>C
Published as POC1B, variant 1: c.560+2T>G/p.?, variant 2: c.560+2T>G/p.?
ISCN -
DB-ID POC1B_000030
Variant remarks solved, homozygous
Reference PubMed: Weisschuh 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B NM_172240.2 +?/. - c.560+2T>G r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391079 DNA SEQ-NG blood RET9 targeted sequencing panel - see paper POC1B 1 LOVD