Variant #0000687282 (NC_000007.13:g.92147282G>A, PEX1(NM_000466.2):c.547C>T)

Individual ID 00283619
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.92147282G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX1_000056 See all 5 reported entries
Variant remarks -
Reference PubMed: Yik 2009, MORL Deafness Variation Database
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. - c.547C>T r.(?) p.(Arg183*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284769 DNA ? - - PEX1 2 Global Variome, with Curator vacancy