Variant #0000724295 (NC_000012.11:g.89864140dup, POC1B(NM_172240.2):c.808dup)

Chromosome 12
Allele Unknown
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.89864140dup
DNA change (hg38) -
Published as POC1B(NM_172240.2):c.808dupA (p.T270Nfs*31)
ISCN -
DB-ID GALNT4_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B-GALNT4 NM_001199781.1 +?/. - c.*52450dup r.(?) p.(=)
GALNT4 NM_003774.4 +?/. - c.*52450dup r.(?) p.(=)
POC1B NM_172240.2 +?/. - c.808dup r.(?) p.(Thr270AsnfsTer31)