Variant #0000618430 (NC_000021.8:g.47746473del, PCNT(NM_006031.5):c.237del)

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.47746473del
DNA change (hg38) g.46326559del
Published as PCNT(NM_006031.5):c.237del (p.(Asp80MetfsTer173))
ISCN -
DB-ID C21orf58_000008
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 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.237del r.(?) p.(Asp80MetfsTer173)
C21orf58 NM_058180.3 ?/. - c.-3821del r.(?) p.(=)