Variant #0000328788 (NC_000021.8:g.47777009C>A, PCNT(NM_006031.5):c.2057C>A)

Chromosome 21
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47777009C>A
DNA change (hg38) g.46357094C>A
Published as PCNT(NM_006031.5):c.2057C>A (p.(Thr686Asn))
ISCN -
DB-ID PCNT_000217
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) 3.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCNT NM_006031.5 ?/. - c.2057C>A r.(?) p.(Thr686Asn)