Variant #0000687125 (NC_000007.13:g.92151419del, PEX1(NM_000466.2):c.270del)

Individual ID 00310543
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.92151419del
DNA change (hg38) g.92522105del
Published as 270delA
ISCN -
DB-ID PEX1_000060 See all 2 reported entries
Variant remarks -
Reference -
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     
PEX1 NM_000466.2 +/. 2 c.270del r.(?) p.(Gln91Argfs*41)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311695 DNA PCR;SEQ - - PEX1 1 Nancy Braverman