Variant #0000351429 (NC_000012.11:g.89864137C>A, POC1B(NM_172240.2):c.810+1G>T)

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.89864137C>A
DNA change (hg38) g.89470360C>A
Published as POC1B(NM_172240.2):c.810+1G>T
ISCN -
DB-ID POC1B_000004 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B-GALNT4 NM_001199781.1 +/. - c.*52453G>T r.(=) p.(=)
GALNT4 NM_003774.4 +/. - c.*52453G>T r.(=) p.(=)
POC1B NM_172240.2 +/. - c.810+1G>T r.spl? p.?