Variant #0000622992 (NC_000012.11:g.89819060T>C, POC1B(NM_172240.2):c.1210A>G)

Chromosome 12
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.89819060T>C
DNA change (hg38) g.89425283T>C
Published as POC1B(NM_172240.2):c.1210A>G (p.T404A)
ISCN -
DB-ID GALNT4_000010
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POC1B-GALNT4 NM_001199781.1 -?/. - c.*97530A>G r.(=) p.(=)
GALNT4 NM_003774.4 -?/. - c.*97530A>G r.(=) p.(=)
POC1B NM_172240.2 -?/. - c.1210A>G r.(?) p.(Thr404Ala)