Genomic variant #0000516514

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.61244904C>T
DNA change (hg38) -
Published as PEX13(NM_002618.3):c.10C>T (p.Q4*)
ISCN -
DB-ID PEX13_000004
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PEX13 NM_002618.3 +/. - c.10C>T pathogenic r.(?) p.(Gln4*)
PUS10 NM_144709.2 +/. - c.-16+239G>A pathogenic r.(=) p.(=)