Variant #0000305173 (NC_000021.8:g.47746483G>C, PCNT(NM_006031.5):c.247G>C)

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.47746483G>C
DNA change (hg38) g.46326569G>C
Published as PCNT(NM_006031.5):c.247G>C (p.G83R)
ISCN -
DB-ID PCNT_000178
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) 0 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.247G>C r.(?) p.(Gly83Arg)
C21orf58 NM_058180.3 -?/. - c.-3831C>G r.(?) p.(=)