Variant #0000900643 (NC_000012.11:g.89815027G>C, NM_172240.2:c.1340C>G (POC1B))

Individual ID 00423252
Chromosome 12
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.89815027G>C
DNA change (hg38) g.89421250G>C
Published as POC1B c.1340C>G, p.(S447*)
ISCN -
DB-ID POC1B_000033 See all 2 reported entries
Variant remarks heterozygous, confirmed on mRNA level
Reference PubMed: Weisschuh 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-11-14 15:26:54 +01:00 (CET)
Date last edited 2022-11-14 15:28:04 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B NM_172240.2 +/. - c.1340C>G r.(?) p.(Ser447*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000424562 DNA SEQ-NG-I;SEQ - whole genome sequencing POC1B 2 LOVD


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