Variant #0000549454 (NC_000012.11:g.89917518A>G, POC1B(NM_172240.2):c.100+1379T>C)

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.89917518A>G
DNA change (hg38) g.89523741A>G
Published as POC1B(NM_172240.3):c.100+1379T>C
ISCN -
DB-ID GALNT4_000008
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) 0.70993 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B-GALNT4 NM_001199781.1 -/. - c.800T>C r.(?) p.(Ile267Thr)
GALNT4 NM_003774.4 -/. - c.809T>C r.(?) p.(Ile270Thr)
POC1B NM_172240.2 -/. - c.100+1379T>C r.(=) p.(=)