Variant #0000818589 (NC_000012.11:g.89891122A>C, POC1B(NM_172240.2):c.101-3T>G)

Individual ID 00388264
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.89891122A>C
DNA change (hg38) g.89497345A>C
Published as c.101-3T>G
ISCN -
DB-ID POC1B_000029 See all 2 reported entries
Variant remarks 2 nt insertion in RNA resulting in exon2 skipping
Reference PubMed: Toulis 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 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 +/. 2i c.101-3T>G r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389503 DNA SEQ-NG blood;saliva;hair;biopsy target gene panels or whole exome sequencing (WES) POC1B 2 LOVD