Variant #0000328774 (NC_000021.8:g.47754471_47754509del, PCNT(NM_006031.5):c.428_466del)

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.47754471_47754509del
DNA change (hg38) g.46334557_46334595del
Published as PCNT(NM_006031.5):c.407_445del (p.(His138_Asp150del))
ISCN -
DB-ID PCNT_000182
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) Variant not found in online data sets
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.428_466del r.(?) p.(Arg143_Gln155del)