Variant #0000686373 (NC_000012.11:g.7361115A>G, PEX5(NM_000319.4):c.1220A>G)

Individual ID 00309937
Chromosome 12
Allele Parent #1
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.7361115A>G
DNA change (hg38) -
Published as [1244A>G]+[548-549dupATCG;604G>C] (N415S)
ISCN -
DB-ID PEX5_000004
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) 0 View details
Owner Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX5 NM_000319.4 +/. 11 c.1220A>G r.(?) p.(Asn407Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311085 DNA;RNA RT-PCR;SEQ - - PEX5 3 Nancy Braverman