Variant #0000296913 (NC_000012.11:g.7362285T>C, PEX5(NM_000319.4):c.1543T>C)

Chromosome 12
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7362285T>C
DNA change (hg38) g.7209689T>C
Published as PEX5(NM_001131025.2):c.1567T>C (p.L523=)
ISCN -
DB-ID PEX5_000037
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX5 NM_000319.4 -?/. - c.1543T>C r.(?) p.(Leu515=)