Variant #0000687244 (NC_000007.13:g.92120646G>Y, PEX1(NM_000466.2):c.3378C>R)

Individual ID 00310523
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.92120646G>Y
DNA change (hg38) g.92491332G>Y
Published as Tyr1126X
ISCN -
DB-ID PEX1_000045
Variant remarks -
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. 21 c.3378C>R r.(?) p.(Tyr1126*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311675 DNA SEQ - - PEX1 2 Nancy Braverman