Variant #0000687226 (NC_000007.13:g.92146925del, PEX1(NM_000466.2):c.904del)

Individual ID 00310490
Chromosome 7
Allele Parent #2
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.92146925del
DNA change (hg38) g.92517611del
Published as 904delG
ISCN -
DB-ID PEX1_000011
Variant remarks -
Reference PubMed: Maxwell 2002
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. 5 c.904del r.(?) p.(Ala302Glnfs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311642 DNA SEQ - - PEX1 2 Nancy Braverman