Variant #0000673866 (NC_000007.13:g.92147046_92147047del, PEX1(NM_000466.2):c.782_783del)

Individual ID 00306140
Chromosome 7
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.92147046_92147047del
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX1_000062 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. - c.782_783del r.(?) p.(Gln261Argfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307271 DNA SEQ-NG - - PEX1 2 Sha Hong