Variant #0000687079 (NC_000007.13:g.(92130988_92132354)?, PEX1(NM_000466.2):c.(2226+1_2417-1)?)

Individual ID 00310497
Chromosome 7
Allele Parent #1
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.(92130988_92132354)?
DNA change (hg38) -
Published as 2227_2416del
ISCN -
DB-ID PEX1_000022 See all 2 reported entries
Variant remarks no variant 2nd chromosome reported
Reference PubMed: Preuss 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. 13 c.(2226+1_2417-1)? r.2227_2416del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311649 DNA SEQ - - PEX1 1 Nancy Braverman