Variant #0000687103 (NC_000007.13:g.92147048G>A, PEX1(NM_000466.2):c.781C>T)

Individual ID 00310521
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.92147048G>A
DNA change (hg38) g.92517734G>A
Published as -
ISCN -
DB-ID PEX1_000043 See all 2 reported entries
Variant remarks -
Reference PubMed: Tamura 2001
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 +/. 5 c.781C>T r.781c>u p.Gln261*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311673 DNA;RNA RT-PCR;SEQ - - PEX1 1 Nancy Braverman