Variant #0000327023 (NC_000002.11:g.61244926C>T, PEX13(NM_002618.3):c.32C>T)

Chromosome 2
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.61244926C>T
DNA change (hg38) g.61017791C>T
Published as PEX13(NM_002618.3):c.32C>T (p.P11L, p.(Pro11Leu))
ISCN -
DB-ID PEX13_000012 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) 0.00014 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX13 NM_002618.3 -?/. - c.32C>T r.(?) p.(Pro11Leu)
PUS10 NM_144709.2 -?/. - c.-16+217G>A r.(=) p.(=)