Variant #0000686390 (NC_000012.11:g.7354399G>C, PEX5(NM_000319.4):c.604G>C)

Individual ID 00309937
Chromosome 12
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.7354399G>C
DNA change (hg38) -
Published as [1244A>G]+[548-549dupATCG;604G>C]
ISCN -
DB-ID PEX5_000035 See all 2 reported entries
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) 0.00214 View details
Owner Johan den Dunnen
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 ?/. - c.604G>C r.(?) p.(Val202Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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