Variant #0000516514 (NC_000002.11:g.61244904C>T, PEX13(NM_002618.3):c.10C>T)

Chromosome 2
Allele Unknown
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.61244904C>T
DNA change (hg38) g.61017769C>T
Published as PEX13(NM_002618.3):c.10C>T (p.Q4*)
ISCN -
DB-ID PEX13_000014
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX13 NM_002618.3 +/. - c.10C>T r.(?) p.(Gln4Ter)
PUS10 NM_144709.2 +/. - c.-16+239G>A r.(=) p.(=)