Variant #0000640603 (NC_000007.13:g.92147105C>T, PEX1(NM_000466.2):c.724G>A)

Individual ID 00283711
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.92147105C>T
DNA change (hg38) g.92517791C>T
Published as -
ISCN -
DB-ID PEX1_000273
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Thoms 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 Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/+ 5 c.724G>A r.(?) p.(Val242Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284861 DNA ? - - PEX1 1 Global Variome, with Curator vacancy