Variant #0000640608 (NC_000007.13:g.92147260G>T, PEX1(NM_000466.2):c.569C>A)

Individual ID 00283716
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.92147260G>T
DNA change (hg38) g.92517946G>T
Published as -
ISCN -
DB-ID PEX1_000084 See all 5 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Xiong 2015
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 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.569C>A r.(?) p.(Ser190*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000284866 DNA ? - - PEX1 1 Global Variome, with Curator vacancy