Variant #0000305484 (NC_000002.11:g.61258816G>A, PEX13(NM_002618.3):c.355G>A)

Chromosome 2
Allele Unknown
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.61258816G>A
DNA change (hg38) g.61031681G>A
Published as PEX13(NM_002618.3):c.355G>A (p.V119I)
ISCN -
DB-ID PEX13_000013 See all 2 reported entries
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) 0.00168 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX13 NM_002618.3 ?/. - c.355G>A r.(?) p.(Val119Ile)
PUS10 NM_144709.2 ?/. - c.-13689C>T r.(?) p.(=)