Variant #0000571110 (NC_000021.8:g.47766113T>G, PCNT(NM_006031.5):c.711T>G)

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.47766113T>G
DNA change (hg38) g.46346199T>G
Published as PCNT(NM_006031.5):c.711T>G (p.H237Q, p.(His237Gln))
ISCN -
DB-ID PCNT_000398 See all 2 reported entries
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) 0.04598 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     
PCNT NM_006031.5 -/. - c.711T>G r.(?) p.(His237Gln)