Variant #0000687154 (NC_000007.13:g.92148322_92148323insAG, PEX1(NM_000466.2):c.343_344insCT)

Individual ID 00310572
Chromosome 7
Allele Both (homozygous)
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.92148322_92148323insAG
DNA change (hg38) g.92519008_92519009insAG
Published as -
ISCN -
DB-ID PEX1_000083
Variant remarks -
Reference PubMed: Ebberink 2011
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 +/. 3 c.343_344insCT r.(?) p.(Asp115Alafs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311724 DNA SEQ - - PEX1 1 Nancy Braverman