Variant #0000305210 (NC_000021.8:g.47754549G>A, PCNT(NM_006031.5):c.506G>A)

Chromosome 21
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.47754549G>A
DNA change (hg38) g.46334635G>A
Published as PCNT(NM_006031.5):c.506G>A (p.R169H)
ISCN -
DB-ID PCNT_000193
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) Variant not found in online data sets
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     
PCNT NM_006031.5 -/. - c.506G>A r.(?) p.(Arg169His)