Variant #0000305162 (NC_000021.8:g.47744127G>T, PCNT(NM_006031.5):c.-16G>T)

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.47744127G>T
DNA change (hg38) g.46324213G>T
Published as PCNT(NM_006031.5):c.-16G>T
ISCN -
DB-ID PCNT_000175
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) 0.04409 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.-16G>T r.(?) p.(=)
C21orf58 NM_058180.3 -/. - c.-1475C>A r.(?) p.(=)