Variant #0000401251 (NC_000023.10:g.18824596G>A, PPEF1(NM_006240.2):c.1327G>A)

Individual ID 00173510
Chromosome X
Allele Parent #1
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.18824596G>A
DNA change (hg38) g.18806478G>A
Published as G443S
ISCN -
DB-ID PPEF1_000030
Variant remarks recurrent, found 17 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 17/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04654 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PPEF1 NM_006240.2 ?/. 16 c.1327G>A r.(?) p.(Gly443Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174393 DNA SEQ - - CT45A5 1 Lucy Raymond