Variant #0000477833 (NC_000023.10:g.48368337G>A, PORCN(NM_203475.1):c.129G>A)

Individual ID 00233988
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.48368337G>A
DNA change (hg38) g.48509949G>A
Published as truncation, detected in blood
ISCN -
DB-ID PORCN_000099 See all 2 reported entries
Variant remarks de novo, somatic mosaicism
Reference PubMed: Yoshihashi 2010
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Raoul Hennekam
Database submission license No license selected
Created by Maria Paola Lombardi
Date created 2012-07-15 22:52:20 +02:00 (CEST)
Date last edited 2012-07-30 11:25:57 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_203475.1 +/+ 2 c.129G>A r.(?) p.(Trp43*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235087 DNA SEQ - - PORCN 1 Raoul Hennekam