Variant #0000294074 (NC_000012.11:g.89864185G>A, POC1B(NM_172240.2):c.763C>T)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.89864185G>A
DNA change (hg38) g.89470408G>A
Published as POC1B(NM_172240.2):c.763C>T (p.L255=)
ISCN -
DB-ID POC1B_000006
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) 9.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B-GALNT4 NM_001199781.1 -/. - c.*52405C>T r.(=) p.(=)
GALNT4 NM_003774.4 -/. - c.*52405C>T r.(=) p.(=)
POC1B NM_172240.2 -/. - c.763C>T r.(?) p.(Leu255=)