Variant #0000686374 (NC_000012.11:g.7362698C>G, PEX5(NM_000319.4):c.1775C>G)

Individual ID 00309938
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.7362698C>G
DNA change (hg38) -
Published as 1799C>G (S600W)
ISCN -
DB-ID PEX5_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Ebberink 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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     
PEX5 NM_000319.4 +/. 15 c.1775C>G r.(?) p.(Ser592Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311086 DNA;RNA RT-PCR;SEQ - - PEX5 1 Nancy Braverman