Variant #0000687096 (NC_000007.13:g.92157886A>G, PEX1(NM_000466.2):-)

Individual ID 00310514
Chromosome 7
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.92157886A>G
DNA change (hg38) g.92528572A>G
Published as -137T>C
ISCN -
DB-ID PEX1_000035
Variant remarks associated with half normal promoter activity
Reference PubMed: Maxwell 2005
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 ?/. _1 - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311666 DNA SEQ - - PEX1 1 Nancy Braverman