Variant #0000687148 (NC_000007.13:g.92157748A>G, PEX1(NM_000466.2):c.2T>C)

Individual ID 00310566
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.92157748A>G
DNA change (hg38) g.92528434A>G
Published as -
ISCN -
DB-ID PEX1_000076 See all 3 reported entries
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) 2.0E-5 View details
Owner Nancy Braverman
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. 1 c.2T>C r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311718 DNA SEQ - - PEX1 1 Nancy Braverman