Variant #0000618431 (NC_000021.8:g.47769636A>G, PCNT(NM_006031.5):c.1246A>G)

Chromosome 21
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.47769636A>G
DNA change (hg38) g.46349722A>G
Published as PCNT(NM_006031.5):c.1246A>G (p.(Ile416Val))
ISCN -
DB-ID PCNT_000474
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) 0.00021 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCNT NM_006031.5 -?/. - c.1246A>G r.(?) p.(Ile416Val)