Variant #0000686406 (NC_000008.10:g.77896472C>A, PEX2(NM_000318.2):c.-17-41G>T)

Individual ID 00309968
Chromosome 8
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.77896472C>A
DNA change (hg38) -
Published as -58G>T
ISCN -
DB-ID PEX2_000010
Variant remarks -
Reference PubMed: Steinberg 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.179
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX2 NM_000318.2 -/. 4 c.-17-41G>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311116 DNA SEQ - - PEX2 1 Nancy Braverman