Variant #0000687288 (NC_000007.13:g.92147357C>T, PEX1(NM_000466.2):c.473-1G>A)

Individual ID 00310616
Chromosome 7
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.92147357C>T
DNA change (hg38) g.92518043C>T
Published as -
ISCN -
DB-ID PEX1_000053 See all 3 reported entries
Variant remarks -
Reference PubMed: Yik 2009
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. 4i c.473-1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311768 DNA SEQ - - PEX1 1 Johan den Dunnen