Variant #0000646833 (NC_000007.13:g.92148392C>G, PEX1(NM_000466.2):c.274G>C)

Individual ID 00289016
Chromosome 7
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.92148392C>G
DNA change (hg38) g.92519078C>G
Published as -
ISCN -
DB-ID PEX1_000265 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sandro Banfi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +?/. - c.274G>C r.(?) p.(Val92Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290184 DNA SEQ-NG - - - 2 Sandro Banfi