Variant #0000686384 (NC_000012.11:g.7362277A>C, PEX5(NM_000319.4):c.1537-2A>C)

Individual ID 00309948
Chromosome 12
Allele Both (homozygous)
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.7362277A>C
DNA change (hg38) -
Published as 1561-2A>C
ISCN -
DB-ID PEX5_000013
Variant remarks -
Reference PubMed: Ebberink 2008
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 Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX5 NM_000319.4 +/. 14 c.1537-2A>C r.[1537_1694del,1537_1561del] p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311096 DNA;RNA RT-PCR;SEQ - - PEX5 1 Nancy Braverman